sarcosinemia (DOID:0112307)
Alliance: disease page
Synonyms: demethylation defect of N-methylglycine; SARCOS; sarcosine dehydrogenase complex deficiency; SARD deficiency; SARDH deficiency
Alt IDs: OMIM:268900, ICD10CM:E72.59, MESH:C537236, ORDO:3129, UMLS_CUI:C0268563
Definition: 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.