Term
| Medical Condition: Albinism |
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Definition
Defective Enzyme: Tyrosine 3-monoxygenase (tyrosinase)
Defective Process: Melanin synthesis from tyrosine |
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Term
| Medical Condition: Alkaptonuria |
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Definition
Defective Enzyme: Homogentisate 1,2 - dioxygenase
Defective Process: Tyrosine degradation |
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Term
| Medical Condition: Argininemia |
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Definition
Defective Enzyme: Arginase
Defective Process: Urea synthesis |
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Term
| Medical Condition: Argininosuccinic Acidemia |
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Definition
Defective enzyme: arginosuccinase
Defective Process:Urea synthesis |
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Term
| Medical condition: Carbamoyl Phosphate Synthetase 1 Deficiency |
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Definition
Defective enzyme: Carbamoyl phosphate Synthetase 1
Defective process: Urea synthesis |
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Term
| Medical Condition: Homocystinuria |
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Definition
Defective enzyme: cystathionine beta-synthase
Defective process: Methionine degradation |
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Term
| Medical Condition: Maple Syrup Urine Disease |
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Definition
Defective enzyme: branched-chain alpha-keto acid dehydrogenase complex
Defective process: isoleucine, leucine, and valine degradation |
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Term
| Medical Condition: Methylmalonic Acidemia |
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Definition
Defective enzyme: methylmalonyl-coA mutase
Defective process: conversion of propinyl-coA to succinyl-coA |
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Term
| Medical Condition: Phenylketonuria |
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Definition
Defective enzyme: phenylalanine Hydroxylase
Defective process: conversion of phenylalanine to tyrosine |
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