| Term Name: | gamma-glutamyl transpeptidase deficiency |
|---|---|
| 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 ) |