Arginosuccinate lyase deficiency

Introduction: Arginosuccinate lyase deficiency

Description of Arginosuccinate lyase deficiency

Arginosuccinate lyase deficiency: SYN: argininosuccinic aciduria.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

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.
Source: CRISP

Arginosuccinate lyase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Arginosuccinate lyase deficiency:

• Arginosuccinate lyase
• Lyase
• Deficiency
• Deficiency disease
• SYN
• Aciduria

Terms associated with Arginosuccinate lyase deficiency:

Broader terms for Arginosuccinate lyase deficiency

• enzyme deficiency
• inborn urea cycle disorder

Source - CRISP

The term Arginosuccinate lyase deficiency can be used for:

• argininosuccinicaciduria
• arginosuccinase deficiency
• arginosuccinic aciduria

Source: CRISP

Other terms that may be related to Arginosuccinate lyase deficiency:

• autosomal recessive trait

Source: CRISP

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