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Metadata
ID DOID:0111257
Name gamma-glutamyl transpeptidase 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
Xrefs

GARD:10099

MESH:C536836

MIM:231950

ORDO:33573

SNOMEDCT_US_2023_03_01:78586005

UMLS_CUI:C0268524

Subsets

DO_rare_slim

Synonyms

gamma-glutamyl transferase deficiency [EXACT]

GGT deficiency [EXACT]

GGT1 deficiency [EXACT]

glutathionuria [EXACT]

GTG deficiency [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

is_a autosomal recessive disease

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