Biochemistry in Tables, Schemes, and Graphs - S.D. Zhamsaranova 2009
Amino Acid Metabolism
Inherited Disorders of the Urea Cycle and Their Main Clinical Manifestations
|
Disease |
Enzyme defect |
Inheritance pattern |
Clinical manifestations |
Metabolites |
||
urine |
||||||
Hyperammonemia type I |
Carbamoyl phosphate synthetase I |
Autosomal recessive |
Coma and death within 24–48 hours of birth |
Gln ↑ Ala ↑ |
Orotate |
Hemodialysis, low-protein diet, benzoate, phenylacetate |
Hyperammonemia type II |
Ornithine transcarbamylase |
X-linked |
Hypotonia, reduced protein tolerance |
Gln ↑ Ala ↑ |
Orotate |
Low-protein diet, phenylacetate, glutamate, citrulline |
Citrullinemia |
Argininosuccinate synthetase |
Autosomal recessive |
Severe neonatal hyperammonemia; in adults, triggered by high-protein load |
Citrulline↑ |
Citrulline↑ |
Low-protein diet, Arginine, glutamate |
Argininosuccinic aciduria |
Argininosuccinate lyase |
Autosomal recessive |
Hyperammonemia, ataxia, seizures, alopecia |
Argininosucci nate↑ |
Argininosucci nate, Gln, Ala, Lys |
Low-protein diet, arginine |
Hyperargininemia |
Arginase |
Autosomal recessive |
Hyperargininemia |
Arg↑ |
Arg, Lys |
Low-protein diet |
Last update: 06/08/2026
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