| Metadata | |
|---|---|
| ID | DOID:0112307 |
| Name | sarcosinemia |
| 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. https://pubmed.ncbi.nlm.nih.gov/22825317/, https://pubmed.ncbi.nlm.nih.gov/5936868/ |
| Xrefs |
MEDDRA:10059299 SNOMEDCT_US_2023_03_01:64852002 |
| Subsets |
DO_rare_slim |
| Synonyms |
demethylation defect of N-methylglycine [EXACT] SARCOS [EXACT] sarcosine dehydrogenase complex deficiency [EXACT] SARD deficiency [EXACT] SARDH deficiency [EXACT] |
| Parent Relationships |