FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term gamma-glutamyl transpeptidase deficiency ID (Ontology) DOID:0111257 (Human Disease)
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.
Also Known As "gamma-glutamyl transferase deficiency" ; "GGT deficiency" ; "GGT1 deficiency" (for all, see Synonyms field below)
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 Genes
 gamma-glutamyl transpeptidase deficiency       4
 for disease ribbon | gamma-glutamyl transpeptidase deficiency       4
 model of | gamma-glutamyl transpeptidase deficiency       4
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   gamma-glutamyl transpeptidase deficiency  4 rec.
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Is a autosomal recessive disease
amino acid metabolic disorder
Part of
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Synonyms
  • "gamma-glutamyl transferase deficiency" EXACT
    "GGT deficiency" EXACT
    "GGT1 deficiency" EXACT
    "glutathionuria" EXACT
    "GTG deficiency" EXACT
Secondary IDs
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GARD:10099
MESH:C536836
MIM:231950
ORDO:33573
SNOMEDCT_US_2023_03_01:78586005
UMLS_CUI:C0268524