gamma-glutamyl transpeptidase deficiency

info · Genetic

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.

Signs and symptoms

Global developmental delay
Urinary incontinence
Reduced gamma-glutamyltransferase level
Reduced tissue gamma-glutamyltransferase activity
Glutathionuria
Intellectual disability
Hyperreflexia
Action tremor
Asthma
Agenesis of corpus callosum

Also known as: GGT deficiency; GGT1 deficiency; GTG deficiency; gamma-glutamyl transferase deficiency; glutathionuria