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13 Cards in this Set
- Front
- Back
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Hyperpheylalanimenias (PKU)
Cause: phenylalanine hydroxylase ______________ Symptoms: ______________ retardation ______________ development ______________ (poor feeding) ______________ serum phenylalanine ______________ urine phenylpyruvic acid (PKU) |
______________
Cause: ______________ deficiency Symptoms: mental ______________ delayed ______________ vomiting (______________) increased serum ______________ increased urine ______________ |
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Tyrosinemia symptoms:
______________ ______________ ______________ |
______________ symptoms:
increased serum tyrosine increased urine tyrosine deficiencies of specific enzymes |
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Type I tyrosinemia cause:
______________ |
______________ cause:
decreased FAA hydrolase synthesis (liver and renal tubular failure) |
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Type II tyrosinemia cause:
______________ |
______________ cause:
decreased tyrosine amino transferase (disease of skin and eyes) |
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Transient neonatal tyrosinemia cause:
______________ |
______________ cause:
premature infants with immature livers (poorly functional) |
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Alkaptonuria cause:
______________ |
______________ cause:
decreased homogentisic acid oxidase |
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Alkaptonuria symptoms:
______________ ______________ ______________ |
______________ symptoms:
increased homogentisic acid in cells and blood degenerative arthritis hyper-pigmentation (especially ears) |
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Homocystinuria cause:
______________ |
______________ cause:
increased cystathionine B synthase |
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Homocystinuria symptoms:
______________ homocysteine ______________ ______________ ______________ ______________ ______________ |
______________ symptoms:
increased ______________ increased methionine decreased cysteine decreased cystine thrombosis ocular and skeletal damage |
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Cystinuria cause
______________ |
______________ cause:
defective renal transport system |
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Cystinuria symptoms:
______________ ______________ |
______________ symptoms
massive urinary excretion of COLA (cystine, ornithine, lysine, arginine) renal calculi (cystine) |
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Maple Syrup Urine Disease cause:
______________ |
______________ cause:
decreased enzymes for oxidative decarboxylation |
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Maple Syrup Urine Disease symptoms:
______________ ______________ ______________ ______________ ______________ ______________ ______________ |
______________ symptoms:
increased branched amino acids in blood and urine (leucine, isolucine, valine) increased alpha ketoacids (blood and urine) vomiting lethargy seizures and coma mental retardation urine order due to ketoacids |
