sarcosinemia

An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2.

Signs and symptoms

• Hypersarcosinemia

Also known as: SARCOS; SARD deficiency; SARDH deficiency; demethylation defect of N-methylglycine; sarcosine dehydrogenase complex deficiency