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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Sarcosinaemia

Introduction


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.
See also

See also

References

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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