Term Name: | sarcosinemia |
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Synonyms: | demethylation defect of N-methylglycine, SARCOS, sarcosine dehydrogenase complex deficiency, SARD deficiency, SARDH deficiency |
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. |
Ontology: | Human Disease [DOID:0112307] ( DOID:0112307 ) |