Search Ontology:
Human Disease

gamma-glutamyl transpeptidase deficiency

Term ID
DOID:0111257
Synonyms
  • gamma-glutamyl transferase deficiency
  • GGT deficiency
  • GGT1 deficiency
  • glutathionuria
  • GTG deficiency
Definition
An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. https://www.ncbi.nlm.nih.gov/pubmed/29483667
References
Ontology
Human Disease   ( DOID:0111257 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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