Sarcosinemia

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Sarcosinemia
Classification and external resources
Sarcosine
ICD-10 E72.5
ICD-9 270.8
OMIM 268900
DiseasesDB 29841

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Sarcosinemia (SAR), also called Hypersarcosinemia and SARDH deficiency,[1] is a rare autosomal recessive[2] metabolic disorder characterized by an increased concentration of sarcosine in blood plasma and urine. It can result from an inborn error of sarcosine metabolism, or from severe folate deficiency related to the folate requirement for the conversion of sarcosine to glycine. It is thought to be a relatively benign condition.[3]

Sarcosinemia has an autosomal recessive pattern of inheritance.
Sarcosinemia has an autosomal recessive pattern of inheritance.

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 268900
  2. Brunialti AL, Harding CO, Wolff J, Guénet JL (1996). "The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34". Genomics 36 (1): 182–4. doi:10.1006/geno.1996.0442. PMID 8812433.
  3. Lee SY, Chan KY, Chan AY, Lai CK (2006). "A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia" (Free full text). Annals of the Academy of Medicine, Singapore 35 (8): 582–4. ISSN 0304-4602. PMID 17006587.

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .