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Pt has megaloblastic anemia that is NOT correctable by VitB12 or folic acid. No hyperammoniemia.
Orotic aciduria --> can't convert orotic acid to UMP d/t defect in orotic acid phosphoribosyltransferase or orotidine 5'-phosphate decarboxylase

Tx: give the deficient product: oral uridine (UMP)
Defective purine salvage owing to absence of HGPRT
Lesch-Nyhan syndrome
- excess uric acid production
What is the role of DNA topoisomerases?

What antibiotic blocks topoisomerase?
Which anti-cancer drug?

What is the Ab that binds to topoisomerase, and which dz is this in?
DNA topoisomerase creates a nick in the helix to relieve the supercoils created during helicase unwinding (during replication)

Fluoroquinolones inhibit DNA gyrase (a specific prokaryote topoisomerase)

Etoposide is the anticancer drug which blocks etopoisomerase

Anti-Scl-70 binds topoisomerase....it's Diffuse Scleroderma (NOT CREST scleroderma)
With this dz...people who go out in the sunlight get tumors on their skin.

What is the MOA?
Xeroderma pigmentosum
- d/t a mutation which prevents the "nucleotide excision repair" process which helps repair the of thymidine dimers (which occurs in these patients when they go into sunlight)
Sensitivity to ionizing radiation, immunodeficiency, ataxia beginning at 1-2 yrs; Some reddened spider-like skin markings as well later on
Ataxia-telangiectasia
- "poor persuit of eyes"
- increased alpha-fetoprotein
What is the mRNA start codon?

What are the 3 stop codons?
start = AUG (codes for methionine)

Stop = UGA, UAA, UAG
- (U go away, U are away, U are gone)
What is the alpha-amanitin?
found in death cap mushrooms...inhibits RNA polymerase II (which codes for mRNA) = causes liver failure if ingested
What do these eukaryotic RNA polymerases make?

RNA polymerase I
RNA polymerase II
RNA polymerase III
Are numbered as their products are used in protein synthesis (1st need an rRNA....then an mRNA enters rRNA, and then tRNA floats in)

RNA polymerase I makes rRNA - synth in nucleolus
RNA polymerase II makes mRNA - synth in nucleoplasm
RNA polymerase III makes tRNA - synth in nucleoplasm
Which antibiotic inhibits prokaryotic RNA polymerase? (hint..it makes your pee orange..)
Rifampin!
Which Antibiotics blocks the 30S prokaryotic subunit?

50?
"buy AT 30, CCELLS at 50"

30S blockers:
- Aminoglycosides
- Tetracyclines

50S blockers:
- Chloramphenicol, Clindamycin
- Erythromycin (all Macrolides!)
- Lincomycin
- Linezolid
- Streptogramins (Q/D)
Southern blot uses an ______ probe to identify a _______

Northern blot uses an ______ probe to identify a _______

Western blot uses an ______
probe to identify a _____
Southern = DNA probe to identify a DNA sequence

Northern = DNA probe to identify an RNA sequence

Western = Antibody to identify a protein
You want to identify a specific piece of DNA.

Should you use northern, southern or western blot?
Specific DNA identification uses Southern blot (uses a DNA probe)
You want to identify a specific piece of RNA.

Should you use northern, southern or western blot?
Specific RNA identification uses Northern blot (uses a DNA probe)
You want to identify a specific piece of protein

Should you use northern, southern or western blot?
Specific protein identification uses Western blot (uses an Antibody)
This testing technique analyzes chromosomes
Karyotyping
- looking at the big chromosomes for any autosomal trisomies, sex chromosome disorders, etc
What probes does a FISH test use?
Uses a fluorescent DNA*** or RNA*** probe to bind a specific GENE site of interest
- used for localize specific genes and direct visualization of anomalies at molecular level
How does the ELISA test work?
It tests Ag-Ab reactivity
- A pt's blood is probed with either a test Ag (looking for an Ab) or a test Ab (looking for an Ag)

- a peroxidase enzyme attached the the test Ag or test Ab will emit an intense color if the test probe binds its specific target.

(for HIV....ELISA is looking for anti-HIV Ab)
Name the genetic term:

Neither of 2 alleles is dominant (both are expressed
codominance
Name the genetic term:

Nature and severity of phenotype vary from 1 individual to another
Variable expression
- varying disease severity (ie....2 pt's with neurofibromatosis type 1 may have varying dz severity
Name the genetic term:

Not all individuals with a mutant genotype show the mutant phenotype
Incomplete penetrance
Name the genetic term:

1 gene has > 1 effect on an individual's phenotype
pleiotropy
Name the genetic term:

differences in phenotype depend on whether the mutation is of maternal or paternal origin
imprinting
- Prader-Willi & Angelman's syndromes
Prader-Willi syndrome is d/t a _______ deletion on Ch ___
Paternal deletion on Ch 15
Angelman syndrome is d/t a _______ deletion on Ch ___
Maternal deletion on Ch 15
"happy puppet"
AngelMan syndrome - Ch 15 Maternal deletion
Name the genetic term:

Severity of dz worsens or age of onset of dz is earlier in succeeding generations
Anticipation
- All of the trinucleotide repeat dz's have this. Include:
- Huntington's dz (CAG)
- MyoTonic dystrophy (CTG)
- FraGile X syndrome (CGG)
- Friedreich's ataxia (GAA)
Name the genetic term:

Random X inactivation in females
Lyonization - seen in Mosaicism (cells in body have different genetic makeup
Name the genetic term:

Mutations at different loci can produce the same phenotype
Locus heterogeneity
- ie. Marfan's syndrome, MEN 2b and homocystinuria; all cause marfanoid habitus
An infant is born and is found to have bilateral absence of vas deferens. The infant also had a meconium ileus. Dx?
CF
What is the dx value for the sweat test in CF?
Cl ions >60 mEq/L
These dz's are d/t a defect in the dystrophin gene (DMD)
Duchenne's (a DELETED dystrophin gene)
Becker's (a MUTATED dystrophin gene = less severe)
A child presents with extra-large testes, jaws and ears.

Dx?
Fragile X syndrome
- XR
- trinucleotide repeate = CGG
- 2nd MC cause of genetic MR after Down's
- defect affecting METHYLATION and expression of FMR1 gene ("fragile mental retardation")
- FMR1 gene codes for FMRP, which is a cytoplasmic protein found in BRAIN (leading to MR) and TESTES (leading to huge testes) = goes to axons & dendrites where it is involved in mRNA translocation
These dz's are d/t instability of MATERNAL meiosis
Trinucleotide repeat expansion dz's (Huntington's, Myotonic dystrophy, Fragile X syndrome, Friedreich's ataxia)
What would be the results of the pregnancy quad screen to dx a child with Down syndrome?

Say whether increased or decreased:
alpha-fetoprotein
B-hCG
estriol
inhibin A
↓ alpha-fetoprotein****** (KNOW!!)
↓ estriol
↑ inhibin A
↑ B-hCG
This dz is associated with advanced maternal age

This dz is associated with advanced paternal age
Down's

Achondroplasia (dwarfism)
What are the 3 possible ways to get Down syndrome?
95% d/t miotic nondisjunction (d/t advanced maternal age)
4% d/t Robertsonian translocation (no maternal association)
1% d/t Down mosaicism (no maternal association)
Which of the trisomies:

rocker bottom feet, micrognathia, clenched hands w/ overlapping fingers & prominent occiput
Edward's syndrome (trisomy 18)
Which of the trisomies:

rocker bottom feet, micropthalmia, cleft-lip/Palate, holoProsencephaly, Polydactyly
Patau's syndrome (trisomy 13)
high-pitched crying/mewing in a young child
- which microdeletion?
Cri-du-chat
- cong. microdeletion of the short arm of Ch 5 (5p-)
"Elfin" facies, & extreme friendliness w/ strangers
Williams syndrome
- think of Will Ferrell in the movie Elf
- "elfin" facies
- MR
- hypercalcemia (d/t increased sensitivity to Vit D)
- well-developed verbal skills
- extreme friendliness with strangers
- CV problems
A common dz where Type III collagen is affected
Ehler's-Danlos syndrome
A common dz where Type I collagen is affected
OI
A common dz where Type IV collagen is affected
Alport's syndrome
A kid presents with fructose in his blood and urine, but he has no sx at all.
Essential fructosuria, d/t fructokinase defect
What is the deficient enzyme in hereditary fructose intolerance?
Aldolase B
- fructose comes into cells and builds up as Fructose-1-P. Aldolase B is needed to breakdown F1P...so F1P builds up, holds onto all the Phosphates, so there isn't enough in the liver to run glycogenolysis or gluconeogenesis
- hypoglycemia, jaundice, cirrhosis, vomiting

Tx: reduce intake of BOTH fructose + sucrose (glucose + fructose)
A kid presents with infantile cataracts. It starts soon after the mom started to give the kid milk.
Galactokinase deficiency d
- galactitol accumulates if galactose is present in diet
- galactose appears in blood and urine
A kid presents with failure to thrive, jaundice, hepatomegaly, infantile cataracts and MR
Classifc galactosemia d/t galactose-1-phosphate uridyltrasferease absence
- accumulation of toxic substances (including galactitol) = accumulates in lens of eye

Tx: exclude galactose & lactose (galactose + glucose) from diet

Don't confuse with Hurler's which has corneal clouding!
What are the enzyme deficiencies in:

Essential fructosuria
Hereditary fructose intolerance
Galactokinase deficiency
Classic galactosemia
Essential fructosuria = fructokinase
Hereditary fructose intolerance = aldose B
Galactokinase deficiency = galactokinase
Classic galactosemia = galactose-1-phosphate uridyltransferase
Sorbitol accumulation in lens is d/t to a deficiency in which enzyme?
sorbitol dehydrogenase
- (NOT aldose reductase...which breaks down glucose to form sorbitol!)
Lactase deficiency causes which type of diarrhea?

What is lactase deficiency caused by?
osmotic

d/t loss of brush-border enzyme
Which drug can be given to inhibit alcohol dehydrogenase?
Fomepizole
How many kcal's in 1 gram of fat, alcohol, carbs & protein?
Fat = 9kcal
Alcohol = 7kcal
Carbs + Protein = 4kcal
What is the RLS for ketone body synthesis?
HMG CoA synthetase
Which enzyme is deficient in Phenylketonuria?
phenylalanine hydroxylase

OR

tetrahydroiopterin cofactor
A child has MR, growth retardation, seizures, FAIR SKIN , eczema and MUSTY/MOUSY BODY ODOR.

Dx?
Phenylketonuria
- d/t defect in phenylalanine hydroxylase or tetrahydroiopterin cofactor = are used to covert phenylalanine to tyrosine
- phenylalanine builds up, and tyrosine becomes essential!
A pt has dark connective tissue, brown pigmented sclera, urine that turns black on standing.

Dx?
Alkaptonuria
- d/t deficiency of homogentisic acid oxidase (accumulation of homogentisic acid..which has a high affinity for CT) in the degredative pathway of tyrosine

- may have debilitation arthralgias since the homgentisic acid is toxic to cartilage!
What are the three possible ways of getting albinism?
1) tyrosinase deficiency (can't synthesize melanin from tyrosine)
2) Defective tyrosine transporters (decrease amounts of tyrosine and thus melanin)
3) Lack of migration of neural crest cells (which give rise to malenocytes!)
Which amino acids can build up in cystinuria?
"COLA"

Cysteinie
Ornithine
Lysine
Arginine

hereditary defect of renal tubular transport of the above amino acids in the PCT
A kid has CNS defects, MR and his urine smells sweet.

Which 3 amino acids could be elevated in his blood?
"I Love Vermont maple syrup from maple trees"

Isoleucine
Leucine
Valine

- d/t blocked degradation of the BRANCHED AA above d/t decrease in alpha-ketoacid dehydrogenase***
Hartnup diseases causes what?
tryptophan excretion in urine (tryptophan is needed to make niacin and seratonin)

Deficiency of niacin leads to PELLAGRA (diarrhea, dementia, dermatitis, death)
3 ways of treating hyperammonemia
Lactulose*** (esp if d/t liver dz)

Benzoate
Phenylbutyrate
- both ind amino acid and lead to excretion)
FA synthesis occurs in the cytoplasm or the mitochondria?

FA degredation (Beta-oxydation) occurs in the cytoplasm or the mitochondria?
FA Synthesis = "S"ytoplasm
- RLS is the Acetyl CoA carboxylase

FA degradation = mitochondrial matrix
All of these degrade TG...but where?

Pancreatic lipase
Lipoprotein lipase (LPL)
Hepatic TG lipase (HL)
Hormone-sensitive lipase
Pancreatic lipase --> degrade dietary TG in small intestine

Lipoprotein lipase (LPL) --> degrade TG circulating in chylomicrons and VLDL

Hepatic TG lipase (HL) - degrade TG remaining in IDL

Hormone-sensitive lipase - degrade TG stored in adipocytes
In Type I DM, lipoprotein lipase is decreased d/t insulin deficiency. What effects will a decrease in LPL have?
accumulation of VLDL and chylomicrons in the blood = hyperTG in blood...but lipids cannot be used = weight loss
Deficiencies in apoB-100 and apoB-48 can cause what?
Abetalipoproteinemia
- can't synthesize lipoproteins d/t deficiencies in apoB-100 and apoB-48
- AR
- sx appear in the first few months of life
- intestine biopsy = accumulation within enterocytes = inability to export absorbed lipid as chylomicrons!

- Sx: failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness

-Tx: Vit E (can fix the night blindness)
Three ways that Niacin deficiency can come about
1) Hartnup dz (decreased tryptophan absroption)

2) Malignant carcinoid syndrome (increased tryptophan metab)

3) INH (decreases Vit B6 which is needed for Niacin synthesis)
Which vitamin is used to tx Familial combined hyperlipidemia?
Niacin (Nicotinic acid)
A woman on OCP experiences peripheral neuropathy. Which vitamin deficiency is d/t the OCP use?
Vit B6 (pyridoxine)
Old person with dysgeusia (abnormal taste) & anosmia (can't smell).

Which vitamin/mineral deficiency?
Zinc
Which vitamin/mineral deficiency can lead to decreased adult hair (axillary, facial, pubic)?
Zinc