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argininosuccinic aciduria

^ http://purl.obolibrary.org/obo/MONDO_0008815

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. [ Orphanet:23 ]

Term info

database cross reference
  • GARD:0005843 (MONDO:equivalentTo)
  • DOID:14755 (MONDO:equivalentTo)
  • UMLS:C0268547 (Orphanet:23/e)
  • SCTID:41013004 (MONDO:equivalentTo)
  • MESH:D056807 (Orphanet:23/e)
  • NCIT:C84569 (MONDO:equivalentTo)
  • Orphanet:23 (OMIM:207900)
  • MedDRA:10058299 (Orphanet:23/e)
  • OMIM:207900 (Orphanet:23/e)
Subsets

gard_rare, ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

closeMatch

http://identifiers.org/meddra/10058299

definition

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0268547, http://purl.obolibrary.org/obo/NCIT_C84569, http://identifiers.org/snomedct/41013004, https://omim.org/entry/207900, http://identifiers.org/mesh/D056807, http://purl.obolibrary.org/obo/DOID_14755, http://purl.obolibrary.org/obo/Orphanet_23

has exact synonym

arginosuccinase deficiency, ASA deficiency, ASL deficiency, argininosuccinic acid lyase deficiency, argininosuccinatelyase deficiency, deficiency of argininosuccinate lyase, argininosuccinic aciduria, argininosuccinase deficiency, argininosuccinic acidemia

has related synonym

argininosuccinate acidemia, argininosuccinicaciduria, urea cycle disorder, arginino succinase type, inborn error of urea synthesis, arginino succinic type, arginino succinase deficiency, argininosuccinate lyase deficiency

id

MONDO:0008815

seeAlso

https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria