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24 Cards in this Set
- Front
- Back
albinism defect
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tyrosinase
|
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phenyketouria defect
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phenylalanine hydroxylase
(tyrosine becomes an essential amino acid) mental retard, musty odor |
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alkaptonuria defect
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homogentisate oxidase
arthritis, urine darkens |
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maple syrup defect
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branched chain decarboxylase
hyperrefelxia, sweet odor urine |
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homocystinuria
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cystathionine synthetase
MR lens dislocation |
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hartnup dz defect
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neutral amino acid transporter
get pellagra from niacin deficiency! |
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in maple syrup disease, there is a buildup of what>
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valine, isoleucine, leucine
(BCAA) |
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what phosphorylates glucose to glucose 6 phosphate in muscle? the liver?
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hexokinase
glucokinase in liver (only substrate is glucose) |
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fructosuria defect
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fructokinase
benign, asymptomatic |
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fructose intolerance defect
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aldolase B
hypoglycemia, liver failur |
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galactosemia defect
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uridyltransferase
cataracts, mental retardation |
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fructose intolerance results in an accumulation of what?
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fructose-1-P which inhibits gluconeogenisis and glycogenolysis
(aldolase B defect) |
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what is von gierke disease?
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lack of glucose 6 phosphatase (trapped in liver)
(fasting hypoglycemia, hepatomegaly, acidosis, failure to thrive) |
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what is pompe disease aka type II
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alpha glucosidase defect in lysosomes...accumulation of glycogen in all organs
(muscle hypotonia, cardiac failure, death before age 2) |
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what is mcardle disease aka type 5
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defect in skel muscle glycogen phosphorylase (myophosphorylase)..can't cleave alpha1-4 bond and release glucose-1-P
(progressive muscle weakness) |
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what are the primary bile acids (derived from cholesterol)?
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cholic acid
chenodeoxycholic acid |
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what are the secondary bile acids?
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deoxycholic acid
lithocholic acid (produced from primary conjugated bile salts by intenstinal bacteria) |
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niemann-pick accumulate
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sphingomyelin
liver and spleen enlarged, foamy cells |
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gaucher accumulate
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glucocerebrosides
liver/spleen enlarged osteoporosis ashkenazi jews |
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krabbe accumulate
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galactocerebrosides
blindness, deafness, convulsions globoid cells |
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metachromatic leukodystrophy accumulate
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sulfatides (arylsulfatase)
progressive paralysis |
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Fabry (X linked recessive) accumulate
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globosides (alpha galactosidase)
reddish-purple skin rash kidney and heart fail angiokeratoma |
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tay-sachs accumulate
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gangliosides(hexosaminidase)
blindess cherry red macule ashkenazi jews |
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lead poisoning results in what accumulate?
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delta ALA protoporphyrin
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