Sarcosinemia malady

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Orphanet51 3129 UMLS via Orphanet66 C0268563 ICD10 via Orphanet28 E72.5 MESH via Orphanet37 C537236

MedGen34 C0268563 MeSH36 D000592 OMIM49 268900 UMLS65 C0268563

NIH Rare Diseases:⁴⁵ 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. last updated: 5/9/2016

MalaCards based summary: Sarcosinemia, also known as sarcosine dehydrogenase complex deficiency, is related to darier disease and colorectal cancer, and has symptoms including hypersarcosinemia An important gene associated with Sarcosinemia is SARDH (Sarcosine Dehydrogenase), and among its related pathways are Glycine, serine and threonine metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include liver, breast and lung.

OMIM:⁴⁹ Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of... (268900) more...

UniProtKB/Swiss-Prot:⁶⁷ 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:⁶⁸ Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal... more...

Symptoms by clinical synopsis from OMIM:

268900

Clinical features from OMIM:

268900

Search GEO for disease gene expression data for Sarcosinemia.