hyperargininemia

Summary
Synonym
  • Arginase deficiency
  • argininemia
  • deficiency of canavanase
Definition
An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
Super Class
urea cycle disorder
External Links
Disease Ontology
DOID:9278
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
414 ARSD arylsulfatase D
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
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