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21 Cards in this Set
- Front
- Back
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-autosomal recessive disorder -enzyme deficient: isovaleric acid CoA dehydrogenase |
isovaleric acidemia |
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clinical features: failure to thrive, vomiting, seizures, coma, death |
isovaleric acidemia |
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sweaty feet odor of urine |
isovaleric acidemia |
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test for isovaleric acidemia |
MS/MS or chromatography |
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no signs and symptoms if there is ONLY gene mutation without enzyme deficiency |
isovaleric acidemia |
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-impaired activity of cystathione-beta-synthetase -inherited autosomal disorder |
homocystinuria |
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-elevated homocysteine & methionine in blood and urine -clinical features: physical defects and mental retardation |
homocystinuria |
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screening test for homocystinuria |
-modified guthrie test uses L-methionine-sulfoxime -MS/MS & LC-MS/MS |
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-inherited autosomal recessive -belongs to the urea cycle disorders -disease |
citrullinemia |
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-enzyme deficiency -build up of citrulline & ammonia in the blood -causes brain damage or death |
type 1 citrullinemia |
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-gene mutation in the sequence of citrin -for transfer molecules into the cell (citrin) |
type 2 citrullinemia |
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-inhibits urea cycle & disrupts protein and nucleotide production -build up of ammonia |
type 2 citrullinemia |
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-inherited autosomal recessive dse -nitrogen accumulates in the form of ammonia |
argininosuccinic aciduria |
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-enzyme deficient: argininosuccinic acid lyase --conversion of argininosuccinic acid to ARGININE |
argininosuccinic aciduria |
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-cessation of urea cycle -causes build up of citrulline in blood |
argininosuccinic aciduria |
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clinical feature of argininosuccinic aciduria |
CNS damage liver damage |
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-inherited autosomal recessive defect -ONLY membrane transport system dse discussed |
cystinuria |
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-defect in the amino acid transport system or reabsorption process --inadequate reabsorption of cysteine in the kidney |
cystinuria |
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two modes of inheritance of cystinuria |
-four amino acids NOT reabsorbed: cysteine, lysine, arginine, ornithine -ONLY cysteine & lysine are NOT reabsorbed |
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screening test for cystinuria |
cyanide-nitroprusside test |
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-NOT limited to cystinuria -positive result is red-purple color |
cyanide-nitroprusside test |
