A A A+ A- A0 A1 A2 A3 A4 A5 A6 A7 A8 A9 AA AB AC AD AE AF AG AH AI AJ AK AL AM AN AO AP AQ AR AS AT AU AV AW AX AY AZ
arginosuccinate lyase deficiency
[autosomal recessive aminoacidopathy characterized by urinary excretion of argininosuccinic acid, due to a deficiency of argininosuccinate lyase, with hyperammonemia, argininosuccinicacidemia, and citrullinemia; clinical findings include mental retardation, seizures, ataxia, hepatomegaly, and friable hair. ( CSP )]
UMLS (CSP) C0596122- Pathologic Function
Relation/PAR: enzyme deficiency
inborn urea cycle disorder
inborn urea cycle disorder
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