Preferred Label : argininosuccinic aciduria;
MeSH definition : Rare autosomal recessive disorder of the urea cycle which leads to the accumulation
of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features
of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures,
tachypnea, coma, and death. Later onset results in milder set of clinical features
including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor
retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.;
MeSH synonym : Aciduria, Argininosuccinic; Acidurias, Argininosuccinic; Argininosuccinic Acidurias; Argininosuccinate Acidemia; Deficiency, ASL; Inborn Error of Urea Synthesis, Arginino Succinic Type; Arginino Succinase Deficiency; Arginino Succinase Deficiencies; Deficiencies, Arginino Succinase; Deficiency, Arginino Succinase; Argininosuccinic Acid Lyase Deficiency; Acidemia, Argininosuccinate; Acidemias, Argininosuccinate; Argininosuccinate Acidemias; Argininosuccinate Lyase Deficiency; Argininosuccinate Lyase Deficiencies; Deficiencies, Argininosuccinate Lyase; Deficiency, Argininosuccinate Lyase; Urea Cycle Disorder, Arginino Succinase Type; Argininosuccinicaciduria; Argininosuccinicacidurias; ASA Deficiency; ASA Deficiencies; Deficiencies, ASA; Deficiency, ASA; ASL Deficiency; ASL Deficiencies; Deficiencies, ASL; argininosuccinase deficiency; argininosuccinic acidemia; Argininosuccinyl-Coa lyase deficiency; arginosuccinase deficiency; asauria;
Wikipedia link : https://en.wikipedia.org/wiki/Argininosuccinate lyase deficiency;
Origin ID : D056807;
UMLS CUI : C0268547;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Has phenotype(s) (HPO)
- MeSH Descriptor(s) used for indexing
- ORDO relation(s)
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- Semantic type(s)
- UMLS correspondences (same concept)
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation
of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features
of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures,
tachypnea, coma, and death. Later onset results in milder set of clinical features
including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor
retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=23
2014
true
France
French
scientific and technical information
argininosuccinic aciduria
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