| 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 |
SNOMEDCT_US_2023_03_01:78586005 |
| Subsets |
DO_rare_slim |
| Synonyms |
gamma-glutamyl transferase deficiency [EXACT] GGT deficiency [EXACT] GGT1 deficiency [EXACT] glutathionuria [EXACT] GTG deficiency [EXACT] |
| Parent Relationships |