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sarcosinemia
Summary
- Synonym
-
- SARCOS
- SARD deficiency
- SARDH deficiency
- demethylation defect of N-methylglycine
- sarcosine dehydrogenase complex 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.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0112307
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
