sarcosinemia

Term ID

DOID:0112307

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. (2)

References

• GARD:158
• ICD10CM:E72.59
• MEDDRA:10059299
• MESH:C537236
• OMIM:268900
• ORDO:3129
• SNOMEDCT_US_2023_03_01:64852002
• UMLS_CUI:C0268563

Ontology

Human Disease   ( DOID:0112307 )