Term Name: | gamma-glutamyl transpeptidase deficiency |
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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. |
Ontology: | Human Disease [DOID:0111257] ( DOID:0111257 ) |