argininosuccinic aciduria

Summary
Synonym
  • Argininosuccinate lyase deficiency
  • argininosuccinic acidemia
  • arginosuccinase deficiency
  • deficiency of argininosuccinate lyase
Definition
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Super Class
amino acid metabolic disorder
External Links
Disease Ontology
DOID:14755
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
414 ARSD arylsulfatase D
9104 RGN regucalcin
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P15289 Arylsulfatase A
P51689 Arylsulfatase D

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024