Conditions / Genetic
argininosuccinic aciduria
info · Genetic
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Signs and symptoms
- Elevated CSF argininosuccinic acid concentration
- Lethargy
- Aminoaciduria
- Seizure
- Hepatic fibrosis
- Ataxia
- Hepatomegaly
- Cerebral edema
- Dry hair
- Failure to thrive
Also known as: Argininosuccinate lyase deficiency; argininosuccinic acidemia; arginosuccinase deficiency; deficiency of argininosuccinate lyase