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Diseases

Genetic and Rare Diseases Information Center (GARD)

Sarcosinemia


Other Names for this Disease
  • Sarcosine dehydrogenase complex deficiency
  • SARD deficiency
  • Hypersarcosinemia
  • SARDH deficiency
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Overview

Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine.[1] It is reportedly most likely benign, unrelated to significant signs or symptoms.[2][3][4] A number of children have been detected by newborn screening and have remained symptom-free.[5] 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.[2][1][5] However, whether symptoms were attributable to sarcosinemia or were coincidental is controversial.[4] Sarcosinemia is sometimes caused by mutations in the SARDH gene and is inherited in an autosomal recessive manner.[2][4] It may also occur in some people with glutaric acidemia type II or severe folic acid deficiency.[2] In some cases, the cause is unknown.[4]
Last updated: 5/9/2016

References

  1. 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.
  2. Nara Sobreira. SARCOSINEMIA; SARCOS. OMIM. January 29, 2013; http://www.omim.org/entry/268900.
  3. Jaak Jaeken. Sarcosinemia. Orphanet. July, 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129.
  4. Bar-joseph I, et. al. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Hum Genet. November, 2012; 131(11):1805-1810.
  5. Jaak Jaeken. Sarcosinemia. Orphanet Encyclopedia. August, 2001; https://www.orpha.net/data/patho/GB/uk-sarco.pdf.
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In Depth Information

  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sarcosinemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Sarcosine dehydrogenase complex deficiency
  • SARD deficiency
  • Hypersarcosinemia
  • SARDH deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.