Term Name: sarcosinemia
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 )

Relationships
is a type of: amino acid metabolic disorder autosomal recessive disease