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311 Cards in this Set
- Front
- Back
|
What is the location, pathway, and nitrogen source of the carbamoyl phosphate synthetases?
|
CPS 1 - the "IA's"
Location = mitochondr-IA Pathway = ur-EA N-Source = ammon-IA CPS II - the "Y's": Location = cYtosol Pathway = pYrimidine sYnthesis N-Source = glYtamine |
|
What is the rate limiting step of purine synthesis?
|
Glycine-PRPP Aminotransferase
(shortly after PRPP is formed) |
|
What is the rate limiting step of pyrimidine synthesis?
|
CPS II = Carbamoyl phosphate synthetase II
Converts glutamine, CO2 & ATP into Carbomoyl phosphate |
|
What are the sources of carbon in the formation of purines?
|
3 sources in Purines:
- THF - CO2 - Glycine |
|
What are the sources of carbon in the formation of pyrimidines?
|
2 sources in Pyrimidines:
- Carbomoyl phosphate / CO2 - Aspartate |
|
What accounts for the positive charge of histones? The negative charge of DNA?
|
Histones d/t + Amino Acids:
- Lysine - Arginine DNA d/t Phosphate groups |
|
How many adenine residues are found in a molecule of DNA if one strand has:
- A = 2000 - G = 500 - C = 1500 - T = 1000 |
= 3000
2000 A on one strand 1000 A on other (d/t 1000 T on original strand) |
|
What strand of DNA nucleotides opposes:
5'-ATTGCGTA-3'? |
5'-TACGCAAT-3'
(always written 5'→3'!!) |
|
Which medication inhibits ribonucleotide reductase?
|
HU = Hydroxyurea
|
|
Which medication inhibits DHFR (Dihydrofolate reductase)?
|
MTX = Methotrexate (eukaryotes)
TMP = Trimethoprim (prokaryotes) Prevent regeneration of THF |
|
Which medication inhibits thymidylate synthase?
|
5-FU = 5-Flurouracil
|
|
Which medication inhibits inosine monophosphate dehydrogenase?
|
Mycophenylate
|
|
Which medication inhibits PRPP synthase?
|
6-MP = 6-Mercaptopurine
|
|
What are the characteristic features of orotic aciduria?
|
- ↑ orotic acid in urine
- NO hyperammonia - megaloblastic anemia (doesn't correct w/ folate / B12) - FTT (failure to thrive) |
|
How does UV light damage DNA?
|
Forms Thymidine dimers on same strand of DNA (TT --> T^T)
Can be read as a single T --> frameshift mutation |
|
What eukaryotic DNA polymerase replicates the lagging strand and synthesizes RNA primer?
|
DNA Polymerase α
|
|
What eukaryotic DNA polymerase repairs DNA?
|
DNA Polymerase ß and ε
|
|
What eukaryotic DNA polymerase replicates mitochondrial DNA?
|
DNA Polymerase Γ
|
|
What eukaryotic DNA polymerase replicates the leading strand DNA?
|
DNA Polymerase δ
|
|
Which antibiotic inhibits 50S peptidyltransferase?
|
Chloramphenicol
Streptogrammins |
|
Which antibiotic binds 50S, blocking translocation?
|
Linezolid
Macrolides |
|
Which antibiotic binds 30S, preventing attachment of tRNA?
|
Tetracyclines
|
|
Which antibiotic inhibitis prokaryotic RNA polymerase?
|
Rifampin
|
|
Which antibiotic inhibits prokaryotic topoisomerase?
|
Fluoroquinolones
|
|
Which antibiotic inhibits prokaryotic dihydrofolate reductase?
|
TMP = Trimethoprim
|
|
What are the 3 different mechanisms that cells employ to break down proteins?
|
1) Ubiquitinization
2) Lysosomal degradation 3) Ca-dependent enzymes |
|
What enzyme catalyzes peptide bond formation during protein synthesis?
|
Peptidyltransferase
(ribozyme) |
|
What enzyme matches amino acids to tRNA?
|
Aminoacyl-tRNA Synthetase
|
|
What are the mRNA STOP codons?
|
UGA
UAA UAG Remember: NO UGGs |
|
What are the different RNA polymerases in eukaryotes?
|
RNA Polymerase I = rRNA
RNA Polymerase II = mRNA RNA Polymerase III = tRNA |
|
What amino acid frequently has more coding sequences in the mRNA than are represented in the peptide that is created from that mRNA?
|
Methionine
AUG = start = methionine usually cleaved off |
|
How is hnRNA processed before it leaves the nucleus?
|
1) Capped (5')
2) Tail (3' Poly-A) 3) Splicing out of introns |
|
What is the characteristic sequence of the promoter region? What does a mutation in the sequence cause?
|
Upstream "Boxes":
- CAAT (-75) - TATA (-25) Mutation will result in decrease in the amount of gene product transcribed. |
|
What enzyme is deficient in Lesch-Nyhan syndrome? What is the Tx?
|
HGPRT = Hypoxanthine-Guanine Phospho-Ribosyl-Transferase.
Tx = Allopurinol (only help w/ hyperuricemia) |
|
What structural motifs allow for proteins to bind to DNA?
|
1) Helix-LOOP-helix
2) Helix-TURN-helix 3) Zinc finger 4) Leucine Zipper |
|
What autosomal dominant disease is a/w a floppy mitral valve, dissecting aortic aneurysms & berry aneurysms?
|
Marfan's syndrome
|
|
What autosomal dominant disease is a/w mitral valve prolapse, liver disease, and berry aneurysms?
|
ADPKD = autosomal dominant polycystic kidney disease
|
|
What autosomal dominant disease is a/w neural tumors and pigmented iris hamartomas?
|
Neurofibromatosis Type 1
Chromosome 17 NF1 → neurofibromin (important to regulate RAS in schwann cells & other neural crest derivatives) |
|
What autosomal dominant disease is a/w colon cancer (VERY strong)
|
FAP = Familial adenomatous polyposis
APC gene = A-fter P-uberty → C-ancer (Chromosome 5) APC also a/w Gardner's syndrome |
|
What autosomal dominant disease is a/w an MI before age 20?
|
Familial hypercholesteremia
Lack/Defect of LDL-R - Aa → 300+ - AA → 700+ a/w tendon xanthomas (achilles tendon) Other MI b/4 20 y/o = hypertrophic cardiomyopathy |
|
What autosomal dominant disease is a/w hemangioblastomas of retina, cerebellum, and medulla?
|
vHL = von Hippel-Lindau
VHL is a tumor suppressor that moderates HIF → angiogenesis Also a/w: - renal cell carcinoma (bilateral, multiple) - pheochromocytoma |
|
What autosomal dominant disease is a/w increased MCHC and hemolytic anemia?
|
Hereditary spherocytosis
Defective: - spectrin - ankyrin lead to round RBC's Dx = osmotic fragility test Tx = splenectomy |
|
What autosomal dominant disease is a/w bilateral acoustic neuromas?
|
Neurofibromatosis Type 2
Chromosome 22 NF2 → merlin Schwannomas |
|
What autosomal dominant disease is a/w caudate atrophy and dementia?
|
Huntington disease
- CAG repeats; anticipation; 40 y/o the C's (#3) and D's (#4) of HD: - 3 nucleotides = CAG: - C - ↓ CNS amounts of: - A - ACh - G - GABA 4 = associated symptoms: - C - Chorea - C - Caudate atrophy - D - Dementia - D - Depression |
|
What autosomal dominant disease is a/w facial lesions, seizure disorder, and increased cancer risk?
|
Tuberous sclerosis
Systemic: - Skin = adenoma sebaceum & "ash leaf spots" - CNS = hamartomas (retina, cortex) → seizures, MR - Cardiac = rhabdomyomas - Renal = cysts & angiomyolipomas |
|
What autosomal dominant disease is a/w cystic medial necrosis of the aorta?
|
Marfan's syndrome
Leads to: - aortic incompetence - dissecting aortic aneurysms |
|
What autosomal dominant disease is a/w dwarfism that has short limbs but normal head & trunk?
|
Achondroplasia
FGF-R 3 a/w advanced PATERNAL age |
|
Which lysosomal storage disease is a/w renal failure?
|
Fabry's disease
Tx = dialysis |
|
What are the only 2 XLR lysosomal storage diseases? What is the method of inheritance of the others?
|
Fabry's disease
Hunter's syndrome Rest are AR |
|
What is the most common lysosomal storage disease?
|
Gaucher's disease
|
|
Which lysosomal storage diseases are a/w an early death (by age 3)?
|
1) Tay-Sachs
2) Niemann-Pick 3) Krabbe's |
|
Which lysosomal storage disease is a demyelinating disease?
|
Metachromatic Leukodystrophy
|
|
How might:
- corneal clouding - mental retardation help distinguish between the mucopolysaccharidoses? |
CC = Corneal clouding
MR = Mental retardation Hurler's - CC + MR Hunter's - MR only Scheie's - CC only I-cell - CC & may/may not MR |
|
Which lysosomal storage disease is characterized by a deficiency in α-L-iduronidase?
|
Hurler's
(& Scheie's) |
|
Which lysosomal storage disease is characterized by a deficiency in Iduronate sulfatase?
|
Hunter's
(XLR) ~ milder hurler's w/o corneal clouding |
|
Which lysosomal storage disease is characterized by a deficiency in Arylsulfatase A?
|
Metachromatic leukodystrophy
- CNS/PNS demyelination |
|
Which lysosomal storage disease is characterized by a deficiency in α-galactosidase?
|
Fabry's disease
(XLR) |
|
Which lysosomal storage disease is characterized by a deficiency in ß-alactocerebrosidase?
|
Krabbe's
-Globoid cells |
|
Which lysosomal storage disease is characterized by a deficiency in ß-glucocerebrosidase?
|
Gaucher's
(Most common) Gaucher's cells = crumpled tissue paper |
|
Which lysosomal storage disease is characterized by a deficiency in Hexosaminidase?
|
Tay-Sach's disease
(Sax = Hex) - Onion skin lysosomes - NO HSM (vs Niemann-Pick) |
|
Which lysosomal storage disease is characterized by a deficiency in Sphingomyelinase?
|
Niemann-Pick
- Foam cells Nie Man Pick's his nose with his SPHINGer |
|
Which lysosomal storage disease is characterized by an accumulation of GM2 ganglioside?
|
Tay-Sach's
|
|
Which lysosomal storage disease is characterized by an accumulation of heparan/dermatin sulfate?
|
Hurler's, Hunter's & Scheie's
(basically all the mucopolysaccharidases) |
|
What lysosomal storage diseases are common among Ashkenazi Jews?
|
1) Tay-Sach's (Cherry)
2) Niemann-Pick (Cherry, HSM) 3) Gaucher's (some forms) |
|
Which lysosomal storage disease is characterized by cells w/ "crinkled paper cytoplasm"?
|
Gaucher's disease
(most common) Gaucher's cells = Macrophages |
|
What is the DDx for Cherry-Red Spot on the retina?
|
1) Lysosomal Storage Disease
- Tay-Sach's - Niemann-Pick (w/ HSM) 2) Vascular - Central retinal artery occlusion |
|
What is the mode of inheritance for glycogen storage disease?
|
AR
|
|
What is the mode of inheritance for fragile X?
|
XLR
FMR1 gene FMRP protein |
|
What is the mode of inheritance for polycystic kindey diseases (adult and infant)?
|
adult = AD → PKD1
infant = AR |
|
What is the mode of inheritance for PKU?
|
AR
defective PAH = Phenylalanine hydroxylase |
|
What is the mode of inheritance for hereditary spherocytosis?
|
AD
Defective: - spectrin - ankyrin |
|
What is the mode of inheritance for duchenne's MD?
|
XLR
deletion of dystrophin (frameshift mutation) |
|
What is the mode of inheritance for familial adenomatous polyposis?
|
AD
APC gene (chromosome 5) |
|
What is the mode of inheritance for Lesch-Nyhan?
|
XLR
HGPRT deficiency → hyperuricemia |
|
What is the mode of inheritance for Bruton's agammaglobulinemia?
|
XLR
BTK gene → tyrosine kinase that allows pro-B cells → pre-B cells |
|
What is the mode of inheritance for thalessemias?
|
AR
|
|
What is the mode of inheritance for sickle cell anemia?
|
AR
|
|
What is the mode of inheritance for Wiscott-Aldrich syndrome?
|
XLR (part of the "WBC's")
→ progressive deletion of B and T Cells |
|
What is the mode of inheritance for von ecklinghausen's Dz?
|
aka Neurofibromatosis 1
AD NF1 (17) → mutation of neurofibomin protein which regulates RAS |
|
What is the mode of inheritance for von Hippel-Lindau Dz?
|
AD
VHL gene (3) → disabled tumor suppressor so constitutive expression of HIF → angiogenesis |
|
What is the mode of inheritance for Hemophilia?
|
XLR
A = FVIII B = FIX |
|
What is the mode of inheritance for Mucopolysaccharidosis?
|
Hurler's = AR
(& Schiei's) Hunter's = XLR |
|
What is the mode of inheritance for familial hypercholesterolemia?
|
AD
LDL-R defective/absent More severe in homozygotes |
|
What is the mode of inheritance for sphingolipidosis?
|
Fabry's = XLR
AR: - Gaucher's (most common) - Niemann-Pick - Tay-Sach's - Krabbe's - Metachromatic leukodystrophy |
|
What is the mode of inheritance for Marfan's syndrome?
|
AD
Fibrillin gene mutation |
|
What is the mode of inheritance for CF?
|
AR
CFTR gene (7; deletion of Phe 508) |
|
What is the mode of inheritance for hemochromatosis?
|
AR
(1º form) → HFE gene? abnormally high intestinal absorption of Fe |
|
What is the mode of inheritance for G6PD Deficiency?
|
XLR
|
|
What is the probability that a female heterozygote for an XL disease will pass it on to her son?
|
50%
|
|
What is the probability that a female heterozygous for an XL disease that mates w/ a normal male will have a carrier daughter?
|
25%
|
|
What is the probablity that a female carrier of an XL disease will have a child w/ that disease assuming she mates a normal male?
|
25%
|
|
What genetic disease is associated with a floppy mitral valve, dissecting aortic aneurysms, and berry aneurysms?
|
Marfan's syndrome.
AD Fibrillin gene mutation |
|
What genetic disease is associated with mitral valve prolapse, liver disease, and berry aneurysms?
|
ADPKD
AD PKD1 (16) |
|
What genetic disease is associated with hemangioblastomas of the retina, cerebellum and medulla?
|
von Hippel-Lindau
VHL gene --> fails to suppress HIF --> angiogenesis |
|
What genetic disease is associated with increased MCHC and hemolytic anemia?
|
Hereditary spherocytosis.
AD Dysfx of: - spectrin - ankyrin |
|
What genetic disease is associated with cafe-au lait spots and soft tissue growths?
|
Neurofibromatosis 1 (aka von Recklinghaus)
AD NF1 |
|
What genetic disease is associated with macroochidism and autism?
|
Fragile X syndrome
XLR FMR1 gene --> FMRP |
|
What genetic disease is associated with endocardial cushion effects (being very common)?
|
Down Syndrome
Trisomy |
|
What genetic disease is associated with recurrent pulmonary infections and steatorrhea?
|
Cystic fibrosis
AR CFTR gene (7; Phe 508) |
|
What genetic disease is associated with multiple fractures and is easily confused w/ child abuse?
|
Osteogenesis Imperfecta
AD Type-1 Collagen problem |
|
What genetic disease is associated with Alzheimer's disease after age 35?
|
Down syndrome
Trisomy 21 |
|
What genetic disease is associated with bilateral acoustic schwannomas?
|
Neurofibromatosis 2
AD Merlin mutation |
|
What genetic disease is associated with excessive fibro-fatty tissue deposits amongst muscle?
|
Duchenne's muscular dystrophy.
XLR DMD gene → Dystrophin gene Pseudohypertrophy common in calf muscles |
|
What test is used to diagnose cystic fibrosis? Which gene is defective?
|
Dx: Chloride sweat test (excess Cl-) >60meq/L
CFTR gene is defective (codes for Cl- channel) |
|
What is the difference b/w Southern, Northern, and Western blots?
|
South = DNA sample, DNA probe
North = RNA sample, DNA probe West = Protein sample, Ab probe |
|
Which lysosomal storage disease is a/w accumulation of GM2 ganglioside?
|
Tay-Sach's disease
|
|
Which lysosomal storage disease is a/w renal failure?
|
Fabry's disease
|
|
Which lysosomal storage disease is a/w accumulation of dermatin sulfate?
|
Both of the mucopolysaccharidoses:
- Hurler's - Hunter's - Scheie's |
|
Which lysosomal storage disease is a/w deficiency in hexosaminidase?
|
Tay-Sach's disease
(Sax - Hex) |
|
Two pt's have the same mutation on chromosome 15 but different phenotypic expresions; one received the mutation from the father while the other from the mother. What is this an example of?
|
Imprinting
This is chromosome 15: - PW = deletion on paternal - Angelman = deletion on maternal also can be d/t uniparental disomy |
|
What glycogen storage disease is a/w glycogen phosphorylase deficiency?
|
Type V = McArdle's disease
glycogen phosphorylase in skeletal muscle (breaks α1,4 bonds) |
|
What glycogen storage disease is a/w glucose-6-phosphatase deficiency?
|
Type I = Von Gierke's
also can't complete gluconeogenesis |
|
What glycogen storage disease is a/w lactic acidosis, hyperlipidemia, and hyperuricemia?
|
Type I = Von Gierke's
d/t severe hypoglycemia |
|
What glycogen storage disease is a/w α-1,6-glucosidase deficiency?
|
Type III = Cori's
aka Debranching enzyme |
|
What glycogen storage disease is a/w α-1,4-glucosidase deficiency?
|
Type II = Pompe's
(is the lysosomal enzyme that can break the 1,4 bonds) |
|
What glycogen storage disease is a/w cardiomegaly?
|
Type II = Pompe's
Pompe's messes w/ the Pump |
|
What glycogen storage disease is a/w diaphragm weakness that leads to respiratory failure?
|
Type II = Pompe's (the adult type)
|
|
What glycogen storage disease is a/w increased glycogen in liver and severe fasting hypoglycemia?
|
Type I = Von Gierke's
|
|
What glycogen storage disease is a/w hepatomegaly, hypoglycemia, hyperlipidemia, but with normally functioning kidneys, lactate and uric acid?
|
Type III = Cori's
Milder than Von Gierke's but still problematic (NOTE: normal lactate) |
|
What glycogen storage disease is a/w painful muscle cramps & myoglobinuria with strenuous exercise?
|
Type V = McArdle's
|
|
What glycogen storage disease is a/w severe hepatosplenomegaly and enlarged kidneys?
|
Type I = Von Gierke's
|
|
Why are alanine and glutamine found in such high concentrations in the blood?
|
They are the 2 major carriers of nitrogen from tissues to the liver (to be used in the urea cycle).
Alanine is just a pyruvate that gets an NH3 from glutamate. Glutamine is a glutamate with an additional NH3. |
|
What is generally involved in transamination?
|
The trans-fer of an amino-group (NH3) to α-ketoglutarate → glutamate.
|
|
What enzyme catalyzes transamination?
|
Aminotransferases.
Named by the donor of the amino group: - alanine aminotransferase takes NH3 from alanine leaving behind pyruvate. |
|
What is required by all aminotransferases?
|
Pyridoxal phosphate, a derivative of Vitamin B6
|
|
What are the 2 most important aminotransferase enzymes and what reactions do they catalyze?
|
1) ALT = Alanine aminotransferase
- alanine + αKG → pyruvate + glutamate 2) AST = Aspartate aminotransferase - alanine + α-KG → oxaloacetate + glutamate |
|
What fuels are used/produced in the post-absorptive period?
|
Produced:
- Glucose (liver) - FA's (adipose) Used: - glucose (muscle, brain, etc) |
|
When does gluconeogenesis begin in the post-absorptive period? When does it become fully active?
|
Begins = 4-6 hours post-prandially
Fully active = 10-18 hours post-prandially (glycogen stores depleted) |
|
How does the pattern of fuel production and usage change in early starvation? (24 hours)
|
Produced:
- glucose (gluconeogenesis & glycogenolysis) - FA's (adipose) Used: - brain = glucose - muscles = FA > glucose |
|
In intermediate starvation (48 hours) how does the pattern of fuel production / consumption change?
|
Produced:
- glucose (gluconeogenesis only) - ketosis (liver) - FA's (adipose) Used: - Brain = glucose > ketones - Muscles = FA's > ketones |
|
What metabolic scenario favors the synthesis of ketone bodies?
|
Excess of Acetyl-CoA from FA Metabolism
|
|
What is the pattern of fuel utilization and production in prolonged starvation (5+ days)?
|
Produced:
- glucose (gluconeogenesis) - ketones (liver) - FA's (adipose) Used: - Brain = ketones - muscles = FA's > ketones |
|
Comparing an overnight fast and 3 day fast, what % energy comes from glucose? ketone bodies?
|
Overnight:
- 95% glucose / 5% ketones 3 Day Fast: - 40% glucose / 60% ketones |
|
What are the major regulatory enzymes of the citric acid cycle?
|
make citrate + the DH's:
1) citrate synthase 2) isocitrate dehydrogenase 3) αketoglutarate dehydrogenase |
|
What is the rate-limiting enzyme for glycolysis?
|
PFK-1 = phosphofructokinase 1
|
|
What is the rate-limiting enzyme for gluconeogenesis?
|
FPB1 = fructose-1,6-bisphosphatase
|
|
What is the rate-limiting enzyme for TCA?
|
Isocitrate dehydrogenase
|
|
What is the rate-limiting enzyme for glycogenesis?
|
Glycogen synthase
|
|
What is the rate-limiting enzyme for glycogenolysis?
|
Glycogen phosphorylase (breaks α1,4)
|
|
What is the functional role of SAM?
|
S-adenosyl-methionine
1) methyl donor 2) generate phosphocreatine (as a backup for ATP) |
|
What is the activated carrier for CO2?
|
Biotin
|
|
What is the activated carrier for glucose?
|
UPD-glucose
|
|
What is the activated carrier for electrons?
|
FADH2, NADH, NADPH
|
|
What is the activated carrier for one-carbon units?
|
THF (folate)
|
|
What is the activated carrier for acyl?
|
CoA & Lipoamide
|
|
How many ATP generated during aerobic metablism? Anaerobic?
|
Heart/Liver = 32
Muscles = 30 Anaerobic = 2 ATP + Lactate |
|
What are the possible products of pyruvate?
|
1) Alanine
2) Oxaloacetate 3) Acetyl Co-A 4) Lactate |
|
What irreversible enzymes are involved in gluconeogenesis?
|
4:
1) Pyruvate carboxylase (Pyr→OAA) 2) PEP carboxykinase (OAA→PEP) 3) F16BP* (RLE) 4) G6Phosphatase (G6P→Glucose) |
|
What is the primary energy source in a pt that has not eaten in two days?
|
FA's
|
|
Waht is the equation for Gibb's free energy?
|
dG = dH - (TxdS)
|
|
A stressed physician comes home, has 8 shots of tequila before dinner and becomes hypoglycemic; what happened?
|
EtOH induced hypoglycemia.
ADH's consume NAD+ → NADH. This pushes: - Pyruvate → Lactate - OAA → Malate therefore NO gluconeogenesis!! |
|
A woman commonly develops intense muscle cramps and darkening in urine after exercise; what is her Dx?
|
McArdle's Disease (Type V glycogen storage disease)
- ↓ Glycogen phosphorylase in skeletal muscle |
|
What is the name of the genetic syndrome a/w a 1000-fold increased risk of skin Ca?
|
Xeroderma pigmentosa
(DNA repair defect) |
|
What is the name of the genetic syndrome a/w alcoholics leading to B1 deficiency & neurological defects?
|
Pyruvate dehydrogenase deficiency
|
|
What is the name of the genetic syndrome a/w abnormal collagen type I synthesis?
|
Osteogenesis imperfecta
|
|
What is the name of the genetic syndrome a/w absence of HGPRTase?
|
Lesch-Nyann Syndrome
|
|
What is the name of the genetic syndrome a/w deficiency of aldolase B?
|
Fructose intolerance
(FAB GUT) |
|
What is the name of the genetic syndrome a/w defective excision repair & thymidine dimer formation?
|
Xeroderma pigmentosa
|
|
What is the name of the genetic syndrome a/w deficiency of cystathionine synthase?
|
Homocystinuria
|
|
What is the name of the genetic syndrome a/w Heinz bodies?
|
G6PD Deficiency
|
|
What is the name of the genetic syndrome a/w musty BO, albinism, MR, and eczema?
|
PKU = phenylketonuria
|
|
What is the name of the genetic syndrome a/w galactose-1-P uridyl transferase deficiency & causing MR, HSM and cataracts?
|
Galactosemia
(FAB GUT) |
|
What is the name of the genetic syndrome a/w a Tx of NO Nutrasweet and ↑ dietary tyrosine?
|
PKU = Phenylketonuria
|
|
What is the name of the genetic syndrome a/w deficiency of tyrosinase?
|
Albinism
|
|
What is the name of the genetic syndrome a/w hyperextensible skin, loose joints, and bleeding tendency?
|
Ehlers-Danlos
|
|
What is the name of the genetic syndrome a/w decreased NADPH d/t lack of HMP enzyme?
|
G6PDH Deficiency
|
|
What is the name of the genetic syndrome a/w inherited defect in tubular amino acid transporter?
|
Cystinuria
(PCT for COLA AA's) |
|
What is the name of the genetic syndrome a/w a Tx including ↓ Methionine and ↑ Cysteine & B6?
|
Homocystinuria
(Cystathione synthase deficiency) |
|
What is the name of the genetic syndrome a/w deficiency in homogentisic acid oxidase?
|
Alkaptonuria (ochronosis)
(HGA oxidase) |
|
What is the name of the genetic syndrome a/w hypoglycemia, jaundice, & cirrhosis?
|
Fructose intolerance
|
|
What is the name of the genetic syndrome a/w self-mutilation, gout, aggression, and choreathetosis?
|
Lesch-Nyann syndrome
|
|
What is the name of the genetic syndrome a/w blocked degradation of branched chain amino acids?
|
Maple syrup urine disease.
α-ketoacid dehydrogenase (Ile, Leu, Val) |
|
What is the name of the genetic syndrome a/w bloating, cramps, and osmotic diarrhea?
|
Lactose intolerance
|
|
What is the name of the genetic syndrome a/w a Tx of acetazolamide to alkalinize the urine?
|
Cystinuria
|
|
What is the name of the genetic syndrome a/w a deficiency of BOTH B and T cells?
|
Adenosine deaminase deficiency
(SCID) |
|
What is the name of the genetic syndrome a/w a Tx of ↓ fructose and sucrose intake?
|
Fructose intolerance
|
|
What is the name of the genetic syndrome a/w a Tx of increased ketogenic nutrient intake?
|
Pyruvate phosphatase deficiency
|
|
What is the name of the genetic syndrome a/w dark brown urine, organs, and connective tissue and is a benign disease?
|
Alkaptonuria.
(HGA oxidase deficiency) |
|
What is the name of the genetic syndrome a/w multiple fractures and blue sclera?
|
Osteogenesis imperfecta
|
|
What is the name of the genetic syndrome a/w a Tx of exluding Galactose and Lactose from the diet?
|
Galactosemia
|
|
What are the essential amino acids?
|
PVT TIM HALL
Phe Val Thr Trp Ile Met His Arg Leu Lys |
|
What is the mechanism of action of lactulose?
|
Lactulose makes the gut lumen negative, trapping NH4+ (in cases of hyperammonemia)
|
|
What amino acid is a precursor of histamine?
|
Histidine
(B6 dependent) |
|
What amino acid is a precursor of porphyrin (& heme)?
|
Glycine
|
|
What amino acid is a precursor of NO?
|
Arginine
|
|
What amino acid is a precursor of GABA?
|
Glutamate
|
|
What amino acid is a precursor of S-adenosyl-methionine (SAM)?
|
Methionine
|
|
What amino acid is a precursor of Creatine?
|
Arginine
|
|
Compare carbamoyl phosphate 1 to carbamoyl phophate 2?
|
CPS1 = mitochondria, urea cycle, NH3 from ammonia
CPS2 = cytoplasm, pyrimidine synthesis, NH3 from glutamine |
|
What is the rate-limiting enzyme for the urea cycle?
|
CPS1 = carbamoyl phosphate synthase 1
|
|
What is the rate-limiting enzyme for the hexose monophosphate pathway?
|
G6PDH
|
|
What is the rate-limiting enzyme for fatty acid synthesis?
|
Acetyl-CoA Carboxylase
|
|
What is the rate-limiting enzyme for ketone body synthesis?
|
HMG-CoA Synthase
|
|
What is the rate-limiting enzyme for cholesterol synthesis?
|
HMG-CoA Reductase
|
|
What is the rate-limiting enzyme for bile acid synthesis?
|
7α-Hydroxylase
|
|
What is the rate-limiting enzyme for heme synthesis?
|
Aminolevulinate Synthase
|
|
What deficiency causes familial hypercholesterolemia?
|
↓LDL-R's
(hyperlipidemia type IIa) |
|
A patient w/ PKU should have a diet low in phenylalanine. What other dietary modifications should this patient make?
|
1) Tyrosine supplementation
2) Replace THB cofactor (if deficient) |
|
A full-term neonate becomes mentally retarded & hyperactive & has a musty odor. What is the diagnosis?
|
PKU
phenols = aromatic |
|
What is the rate-limiting enzyme for ß-oxidation of FA's?
|
Carnitine acyltransferase
|
|
A 2 y/o girl has an increase in abdominal girth, failure to trhive, and skin & hair pigmentation. What is her diagnosis?
|
Kwashiorkor
|
|
A middle-aged man has dark spots on his sclera and has noted that his urine turns black when left sitting for a period of time. What is the Dx?
|
Alkaptonuria
|
|
A patient has a genetic disease in which the treatment includes protein restriction to prevent mental retardation, ketoacidosis, and death. What is the Dx?
|
Maple syrup urine disease
|
|
An 18 y/o female has moderate generalized abdominal pain, normal WBC and no fever. She has paresthesias in her lower extremities. What is her Dx?
|
Acute Intermittent Porphyria
|
|
A 45 y/o male alcoholic gets blistering lesions in sun-exposed areas especially the dorsum of the hands. He also has hypertrichosis of the face. What is the Dx?
|
Porphyria Cutanea Tarda
|
|
What is the treatment of homocystinuria?
|
1) ↓methionine
2) ↑cystine 3) ↑B6, B12, Folate |
|
What protein is involved in transporting an endocytosed vesicle from the plasma membrane to the endosome?
|
Clathrin
(when numerous receptors are stimulated, their intracellular adaptin portions recruit clathrin. dynamin "pinches off" the phagosome.) |
|
What molecule targets proteins in the ER for the lysosomes?
|
Mannose-6-phosphate
(absent in I-Cell disease) |
|
What are the names of the B vitamins?
|
The Rich Never Pan Pyrite Filled Creeks
B1 = T - thiamine B2 = R - riboflavin B3 = N - niacin B5 = P - pantothenic acid B6 = P - pyridoxine B9 = F - folic acid B12 = C - cobalamin |
|
What is the name of vitamin A?
|
Retinal, Retinol
|
|
What is the most common vitamin deficiency in the US?
|
Folic acid deficiency
|
|
What is the functionally active form of thiamine?
|
Vitamin B1 = Thiamine
TPP = Thiamine Pyrophosphate |
|
In which reactions does the active form of Vitamin B1 have a role?
|
TPP is needed for:
1) Pyruvate dehydrogenase → Acetyl-CoA 2) αKG dehydrogenase (TCA) 3) Transketolase (HMP) 4) Branched-chain AA DH |
|
How is thiamine deficiency diagnosed?
|
Increased RBC transketolase activity w/ addition of thiamine.
|
|
What 2 syndromes are associated w/ B1 deficiency? In what populations are they seen?
|
Ber1Ber1 & Wernicki-Korsakoff
1) BeriBeri = places w/ polished rice as major part of diet 2) W-K = Chronic Alcoholics |
|
What characterizes Dry BeriBeri?
|
1) Nerves = Nonspecific PN w/ myelin degeneration
2) Drops = Toe, Wrist, Foot 3) Muscle = weakness 4) Reflexes = Low/absent |
|
What characterizes Wet Beriberi?
|
1) Peripheral vasodilation
- cardiac failure (high-output) - peripheral edema 2) Cardiomegaly |
|
What are the clinical characteristics of Wernicke-Korsakoff syndrome?
|
Classic Triad (ACO - Kors-ACO-ff) = A-taxia, C-onfusino, O-phthalmoplegia
1) Gait Ataxia 2) Ophthalmoplegia = disturbances, nystagmus 3) Confusino - mental dysfx (apathy, listlessness, etc) |
|
How is Niacin effective in treating Hyperlipidemia? What type specifically?
|
Niacine (B3) @ 100x the RDA:
used to tx Type IIb Inhibits lypolysis in adipose leading to: - less FFA's - less FA's → liver - less VLDL & therefore less LDL |
|
What are some of the symptoms a/w riboflavin deficiency?
|
2C's of B2:
- C - Cheilosis (& angular stomatitis) - C - Corneal vascularization Also Glossitis |
|
What are the biologically active forms of Riboflavin? What are they used for?
|
riboFlavin = B2
FMN FAD (generate 2 ATP = B2) Used in RE-DOX rxn's |
|
What are the biologically active forms of Niacin? What are they used for?
|
Niacin = B3
NAD+ NADP+ (generate 3 ATP = B3) Used in RE-DOX rxn's |
|
Which amino acid is required for generation of Niacin?
|
TryptophaN
|
|
What disease is caused by niacin deficiency? What are its symptoms?
|
Niacin = B3
Dz = Pellagra Syx = 3D's of B3: - Diarrhea - Dermatitis - Dementia |
|
What population is prone to pellagra?
|
Populations that rely primarly on corn → B3 deficiency
Corn lacks tryptophan, so cannot synthesize. |
|
What conditions may lead to pellagra?
|
Pellagra = Niacin (B3) deficiency d/t:
1) Hartnup Dz = ↓Trp absorption 2) Carcinoid Syn = ↑Trp metabolism 3) INH Rx = ↓B6 (to make Trp→B3) |
|
What is the main SE of high dose Niacin treatment for hyperlipidemia? How is it prevented?
|
Flushing = peripheral dilation
Can reduce it by taking ASA |
|
What is pantothenic acid and what is its role in metabolism?
|
Pantothenic acid = B5
Component of Co-A; Fx = transfer of acyl groups & FA synthesis |
|
What is the biologically active form of pyridoxine?
|
Pyridoxine = B6
Active form = Pyridoxal Phophate |
|
What is the metabolic function of pyridoxal phosphate?
|
Active form of B6
Coenzyme for numerous enzymes: - AA metabolism (transaminations & deaminations) - Glycogen phopsphorylates - Decarboxylations |
|
What drug can lead to deficiency of B6 and B3? What is it used to treat?
|
INH = Isoniazid
Tx for TB |
|
What are the clinical findings of B6 deficiency?
|
Same as riboflavin:
- cheilosis - stomatosis (angular) - glossitis + nervous/neuro: - convulsions - hyperirritibility - PN |
|
In what metabolic reactions is folic acid involved? What is its biologically active form?
|
Synthesis of:
- T = Thymine - A, G = Purines (THF→TAG) THF is active form |
|
What deficiencies cause megaloblastic anemia?
|
B12 and B9 (Folate)
|
|
What is the result of excess folate?
|
B12 deficiency
Uses up B12 in converting excess Folate → THF |
|
What is at the center of B12?
|
Cobalamin has a corrin ring @ the center which contains:
Cobalt |
|
In what metabolic reactions is vitamin B12 involved?
|
2 rxn's for B12:
1) Homocysteine →methionine (using THF) 2) Methyl-malonyl CoA → Succinal-CoA |
|
What are the steps of intake/absorption of B12?
|
1) Pepsin (gastric) releases B12
2) B12-Binding proteins (salivary; aka cobalophilins/R-binders) 3) Pancreatic proteases (R-B12 → B12 in duodenum) 4) IF binds (from parietal cells) 5) IF-B12 binds IF-R's (terminal ileum) 6) Transcobalamin II (serum) picks up |
|
What is the Schilling test?
|
Radiolabeled B12; 4 stages:
1) B12 (IM normal; PO radio) 2) B12 + IF (Malabsorption) 3) B12 + Abx (SIBO) 4) B12 + Pancreatic enzymes |
|
What is another name for B12 neuropathy?
|
Subacute combined degeneration
Also seen in: - Vitamin E deficiency - Friedreich's ataxia |
|
What is usually the cause of B12 deficiency?
|
Autoimmune destruction of Parietal cells of the stomach (no IF)
|
|
What are 2 malabsorption problems that cause B12 deficiency?
|
Both in the terminal ileum:
1) Crohn's Dz 2) Celiac sprue |
|
What is the metabolic role of biotin?
|
It's an Apoenzyme used in Carboxylation ("buy-a-tin of CO2")
PC ACC PPC MCC |
|
What can cause a deficiency in biotin?
|
1) Avidin glycoprotein (in egg whites)
2) Abx use (biotin synthesized by gut flora) |
|
What is the main metabolic rxn of vitamin C? What are the others?
|
1) Collagen synthesis: Hydroxylation of:
- Proline - Lysine Also: 2) Catecholamines: DA → NE (dopamine ß-hydroxylase) 3) Fe Absorption: keeps in reduced Fe2+ state |
|
What are the major signs of vitamin C deficiency?
|
Scurvy:
- Collagen: - Sore, spongy gums - Loose teeth - Fragile BV's (hemorrhages, hemarthrosis) - Impaired wound healing - Fe absorption - Anemia |
|
What are the different forms of Vitamin A?
|
1) ß-carotene (from diet)
2) retinal (intestinal cleavage of ß-carotene → 2 retinal) 3) retinol 4) retinoic acid (byproduct of metabolism; helps w/ embryological patterning & the reason Vit A is teratogenic) |
|
How is vitamin A stored in the body until it's needed? How is it transported?
|
Stored in Liver as Retinol esters.
Plasma Retinol-Binding Protein (RBP) transports |
|
What are the broad metabolic functions of vitamin A?
|
1) Vision
2) Growth (embryologic) 3) Reproduction (spermatogenesis; prevent fetal absorption) 4) Epithelial cell maintenance (especially mucous secreting cells) |
|
What disorders is vitamin A used to treat?
|
1) TOP Retinoic-Acid:
- acne - psoriasis 2) PO Isotretinoin (Accutane) - acne 3) Systemic: - meAsles - AmL (subtype M3) |
|
What are the signs of Vitamin A deficiency?
|
B-lind K-ids N-eed X-ray vision:
B - Bitot's spots K - Keratomalacia N - Night blindness X - Xerophthalmia |
|
What are the signs of Vitamin A toxicity?
|
1) ↑ICP → H/A, N/V, stupor
2) Skin → dry, pruritic 3) Bone/Joint → pain 4) Liver → enlarged (cirrhotic?) |
|
What populations are contraindicated for Vitamin A supplementation?
|
1) Pregnant women (teratogenic)
2) Smokers (↑ lung cancer risk) |
|
What are the steps in Vitamin D metabolism?
|
1) Gut (D2) or Skin (D3)
2) BP (α1-globulin) binds → liver 3) 25-hydroxylase (liver) 4) 1αhydroxylase (kidney) |
|
What is the precursor of Vitamin D in the skin?
|
7-dehydrocholesterol
|
|
What are the other names for types of vitamin D?
|
D2 = ERGOcalciferol
D3 = CHOLEcalciferol 1,25-(OH)2D3 = CalciTRIOL |
|
What are the names for Vitamin D deficiency? What is the pathogenesis?
|
1) Rickets (kids)
2) Osteomalacia (adults) ↓VitD → ↓Ca → ↑PTH: - Ca from bone - Ca not excreted (renal) - PO4 hyper-excreted (renal) Hypophosphatemia → impairment of bone |
|
What is the basic derangement found in rickets & osteomalacia?
|
Excessive UN-mineralized bone matrix
|
|
What are the common clinical manifestations of rickets?
|
R-ickets B-ends L-ittle P-eople:
R - Rachitic Rosary B - Bow-legged L - Lumbar Lordosis P - Pectus carinatum pp99 |
|
What disease is a/w vitamin D toxicity? Why?
|
Sarcoidosis
Epithelioid Macrophages also express 1α-hydroxylase |
|
What is the principle role of Vitamin K?
|
Post-translational modification (gamma-carboxylation of glutamic acid) of clotting factors
|
|
What proteins rely on Vitamin K for their synthesis?
|
Clotting factors: 2, 7, 9, 10
Proteins C & S |
|
What group is prone to Vitamin K deficiency and why?
|
Newborns.
Vitamin K synthesized by intestinal flora & not in breast milk. Single 1mg IM dose @ birth. |
|
What drugs cause Vitamin K deficiency w/ prolonged use?
|
1) Coumadin / Warfarin
2) Anticonvulsants 3) Abx's (lose gut bacteria) |
|
What characterizes Vitamin K toxicity?
|
In an infant:
1) Hemolytic anemia 2) Jaundice |
|
What is the other name for Vitamin E?
|
α-Tocopherol
|
|
What is associated w/ Vitamin E deficiency?
|
1) Subacute combined degeneration
- ataxia - hyperreflexia - impaired position/vibration (PN) 2) Proximal muscle weakness 3) Hemolytic anemia |
|
What mutation results in Vitamin E deficiency?
|
AR - α-Tocopherol Transfer Gene Protein
|
|
A patient presents with convulsions and irritability. What vitamin deficiency is causing these symptoms?
|
Vitamin B6
Convulsions Hyperirritability PN pp96 |
|
Which vitamin deficiency results in gum bleeding, bruising, anemia, and poor wound healing?
|
Vitamin C = Scurvy
|
|
Vitamin C is necessary for the hydroxylation of which amino acids of collagen synthesis?
|
Proline
Lysine |
|
What vitamin, in excess, causes hypercalcemia?
|
Vitamin D
(also Vitamin A) |
|
What vitamins have a function similar to reduced glutathione?
|
Vitamin A, C, E
|
|
An alcoholic develops a rash, diarrhea, and altered mental status. What is the vitamin deficiency?
|
B3 = Niacin
3 D's: - Dementia - Dermatitis - Diarrhea |
|
Which vitamin deficiency is a/w with increased RBC fragility?
|
Vitamin E
|
|
Which vitamin deficiency is a/w with dermatitis, cheilosis, glossitis?
|
Vitamin B2, B3, B9, B12 (and iron)
|
|
Which vitamin deficiency is a/w with PN, angular cheilosis, glossitis?
|
B12
|
|
Which vitamin deficiency is a/w with hemorrhagic disease?
|
Vitamin K
|
|
Which vitamin deficiency is a/w with neural tube defects?
|
B9 = Folate
|
|
Which vitamin deficiency is a/w with dermatitis, diarrhea, dementia?
|
B3 = Niacin
|
|
Which vitamin deficiency is a/w with megaloblastic anemia?
|
B9 (folate) and B12 (cobalamin)
|
|
Which vitamin deficiency is a/w with pernicious anemia?
|
B12
|
|
Which vitamin deficiency is a/w with Bitot's spots, keratomalacia, and xerophthalmia?
|
Vitamin A
B-lind K-ids N-eed X-ray vision pp 95 |
|
Which vitamin deficiency is a/w with osteomalacia?
|
Vitamin D
|
|
Which vitamin deficiency is a/w with Rickets?
|
Vitamin D
|
|
Which vitamin can be used to Tx acne and psoriasis?
|
Vitamin A = TOP Retinoic Acid
|
|
Which vitamin is used in REDOX rxn's?
|
B2 (riboFlavin) and B3 (Niacin)
|
|
Which vitamin is used in carboxylation rxn's?
|
Biotin
|
|
Which vitamin is involved in the hydroxylation of prolyl residues?
|
Vitamin C
Proline Lysine |
|
Which vitamins are used by pyruvate dehydrogenase and α-ketoglutarate dehydrogenase?
|
T-ender L-oving C-are F-or N-oone
T - TPP [Thiamine] (B1) L - Lipoic Acid C - CoA (B5) F - FAD (B2) N - NAD (B3) |
|
Which vitamin is given prophylactically to newborns?
|
Vitamin K
(1mg IM) |
|
Which vitamin can be used to elevate HDL and lower LDL?
|
Niacin (B3)
Used to Tx Type IIb hyperlipidemia SE = facial flushing PPx = ASA |
|
Which vitamin deficiency can be due to INH use?
|
B3 (Niacin) via B6 (pyridoxine)
|
|
What are the symptoms of zinc deficiency?
|
NO healing, sexing, shaving, smelling, tasting:
1) poor wound healing 2) hypogonadism 3) ↓ adult hair 4) anosmia 5) dysgeusia |
|
What enzyme is inhibited by the drug fomepizole?
|
Alcohol Dehydrogenase
Tx for poisoning of: - methanol - ethylene glycol it's Fo' - M & E - piz(oning)-ol (alcohol dehydrogenase) - e |
|
What is the difference between kwashiorkor and marasmus?
|
Kwashiorkor = PROTEIN deficiency (mnemonic MEAL):
M - malnutrition E - edema A - anemia L - liver (fatty) Marasmus = ENERGY deficiency (M for Muscle wasting) |
|
What vitamins should vegetarians supplement in their diet?
|
B12
|
|
What drugs act on microtubules?
|
P-rescribe M-icro-T-ubule G-rowth V-oiding C-hemicals:
P = Paclitaxel (-taxels) M-T = Mebendazole, thiabendazole (-bendazoles) G = Griseofulvin V = Vincristine/vinblastine C = Colchicine |
|
What findings are a/w Ehlers-Danlos syndrome?
|
Ehlers-Danlos = type III collagen defect
a/w: 1) Hyperextensible skin 2) Bleeding/bruising (berry aneurysms) 3) Hypermobile joints |
|
Which arachidonic acid product causes increased bronchial tone?
|
TXA2 = Thromboxane
LT = Leukotrienes |
|
Which arachidonic acid product causes decreased bronchial tone?
|
PGE4, PGF4 = Prostaglandins
PGI4 = Prostacyclins |
|
Which arachidonic acid product causes increased platelet aggregation?
|
TXA2 = Thromboxane
|
|
Which arachidonic acid product causes decreased platelet aggregation?
|
PGI4 = Prostacyclin
|
|
Which arachidonic acid product causes increased uterine tone?
|
PGE4, PGF4 = Prostaglandins
|
|
Which arachidonic acid product causes decreased uterine tone?
|
PGI4 = Prostacyclin
|
|
Which arachidonic acid product causes increased vascular tone?
|
TXA2 = Thromboxane
|
|
Which arachidonic acid product causes decreased vascular tone?
|
PGE4, PGF4 = Prostaglandins
PGI4 = Prostacyclin |
|
What are the 2 most abundant substances in the plasma membrane?
|
Phospholipids
Cholesterol |
|
What drugs act on the arachidonic acid pathway and where do they exert their function?
|
1) Steroids = PLA2
2) ZiLEUtin = LOX 3) NSAIDS/APAP/CeleCOXib = COX 4) ZafirLUkast/MonteLUkast = LT-Receptors |
|
What provides the structural framework for DNA and the nuclear envelope?
|
Lamins A, B, and C
|
|
How are molecules transported to the nucleus?
|
Tagged w/ Nuclear Localization Signals rich in (+) AA's:
- Lysine - Arginine |
