Preferred Label : Argininosuccinic aciduria;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Asl deficiency; Argininosuccinic acid lyase deficiency; Argininosuccinate lyase deficiency; Argininosuccinase deficiency;
Description : Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea
cycle disorders are characterized by the triad of hyperammonemia, encephalopathy,
and respiratory alkalosis. Five disorders involving different defects in the biosynthesis
of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency
(311250), carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase
deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency, and arginase
deficiency (207800). Erez (2013) reviewed argininosuccinic aciduria and progress in
understanding it as a monogenic disorder that, like other inborn errors of metabolism,
manifests as a multifactorial disorder at the phenotypic level.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the argininosuccinate lyase gene (ASL, 608310.0001);
Laboratory abnormalities : Hyperammonemia; High plasma citrulline (100-300 micromolar); High plasma glutamine; Hepatic argininosuccinase deficiency; Argininosuccinicaciduria; Elevated serum glutamic oxaloacetic transaminase (SGOT); Elevated serum glutamic pyruvic transaminase (SGPT); Orotic aciduria;
Prefixed ID : #207900;
Origin ID : 207900;
UMLS CUI : C0268547;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
