Details of Disease | DrugMAP

General Information of Disease (ID: DIS141BY)

Disease Name	Argininosuccinic aciduria
Synonyms	urea cycle disorder, arginino succinase type; argininosuccinate acidemia; argininosuccinicaciduria; inborn error of urea synthesis, arginino succinic type; argininosuccinate lyase deficiency; arginino succinase deficiency; argininosuccinase deficiency; deficiency of argininosuccinate lyase; ASL deficiency; argininosuccinatelyase deficiency; argininosuccinic acidemia; ASA deficiency; argininosuccinic acid lyase deficiency; argininosuccinic aciduria; arginosuccinase deficiency
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.
Disease Hierarchy	DISKD7HM: Urea cycle disorder or inherited hyperammonemia DIS141BY: Argininosuccinic aciduria
Disease Identifiers	MONDO ID MONDO_0008815 MESH ID D056807 UMLS CUI C0268547 OMIM ID 207900 MedGen ID 78687 HPO ID HP:0025630 Orphanet ID 23 SNOMED CT ID 41013004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADSL	OTSNJALL	Strong	Altered Expression	[1]
ASS1	OT4ZMG0Q	Strong	Biomarker	[2]
ASL	OTI2NGQR	Definitive	Autosomal recessive	[3]
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References

1	Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL.J Biol Chem. 2004 Dec 17;279(51):53789-97. doi: 10.1074/jbc.M409974200. Epub 2004 Oct 7.
2	Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.