Other Names for this Disease
- Sarcosine dehydrogenase complex deficiency
- SARD deficiency
- SARDH deficiency
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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.Sarcosinemia is a rare
Last updated: 5/9/2016
- A. Benarrosh, R. Garnotel, A. Henry, C. Arndt, P. Gillery, J. Motte, and S. Bakchine. A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine. JIMD Rep. 2013; 9:93-96.
- Nara Sobreira. SARCOSINEMIA; SARCOS. OMIM. January 29, 2013; http://www.omim.org/entry/268900.
- Jaak Jaeken. Sarcosinemia. Orphanet. July, 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129.
- Bar-joseph I, et. al. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Hum Genet. November, 2012; 131(11):1805-1810.
- Jaak Jaeken. Sarcosinemia. Orphanet Encyclopedia. August, 2001; https://www.orpha.net/data/patho/GB/uk-sarco.pdf.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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