Sarcosinemia (SARCOS)

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OMIM 56 268900 MeSH 43 D000592 MESH via Orphanet 44 C537236 ICD10 via Orphanet 33 E72.5 UMLS via Orphanet 72 C0268563

Orphanet 58 ORPHA3129 MedGen 41 C0268563 SNOMED-CT via HPO 68 128602000 18963009 22066006 224958001 233873004 258211005 45227007 52824009 53888004 54200006 56786000 59770006 60342002 64852002 76976005 85102008 86765009 91327001 9236007 95486002 more UMLS 71 C0268563

NIH Rare Diseases : ⁵² Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine. It is reportedly most likely benign, unrelated to significant signs or symptoms. A number of children have been detected by newborn screening and have remained symptom-free. Some reports have associated sarcosinemia with various symptoms including intellectual disability and other neurologic problems; growth failure; enlarged liver; cardiomyopathy ; vision or hearing problems; and skeletal abnormalities. However, whether symptoms were attributable to sarcosinemia or were coincidental is controversial. Sarcosinemia is sometimes caused by mutations in the SARDH gene and is inherited in an autosomal recessive manner. It may also occur in some people with glutaric acidemia type II or severe folic acid deficiency . In some cases, the cause is unknown.

MalaCards based summary : Sarcosinemia, also known as sarcosine dehydrogenase complex deficiency, is related to darier-white disease and neuroblastoma. An important gene associated with Sarcosinemia is SARDH (Sarcosine Dehydrogenase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Glycine, serine and threonine metabolism. Affiliated tissues include liver, kidney and bone, and related phenotypes are hypersarcosinemia and hypersarcosinuria

OMIM : ⁵⁶ Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase (EC 1.5.99.2) and converted to glycine by sarcosine dehydrogenase (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001). (268900)

UniProtKB/Swiss-Prot : ⁷³ Sarcosinemia: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems.

Wikipedia : ⁷⁴ Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal recessive... more...

Clinical features from OMIM:

268900

Search Clinical Trials , NIH Clinical Center for Sarcosinemia

Search GEO for disease gene expression data for Sarcosinemia.