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 )

Relationships
is a type of: amino acid metabolic disorder autosomal recessive disease