glycine N-methyltransferase deficiency

A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous

A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.

Signs and symptoms

• Hypermethioninemia
• Hepatomegaly
• Elevated circulating hepatic transaminase concentration

Also known as: GNMT deficiency; hypermethioninemia due to GNMT deficiency; hypermethioninemia due to glycine N-methyltransferase deficiency