Sarcosinemia

Infobox_Disease
Name = Sarcosinemia


Caption = Sarcosine
DiseasesDB = 29841
ICD10 = ICD10|E|72|5|e|70
ICD9 = ICD9|270.8
ICDO =
OMIM = 268900
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Sarcosinemia (SAR), also called Hypersarcosinemia and SARDH deficiency, [OMIM|268900] is a rare autosomal recessive [cite journal |pmid=8812433 |year=1996 |author=Brunialti AL, Harding CO, Wolff J, Guénet JL |title=The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34 |volume=36 |issue=1 |pages=182–4 |doi=10.1006/geno.1996.0442 |journal=Genomics] 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. [cite journal |pmid=17006587 |year=2006 |author=Lee SY, Chan KY, Chan AY, Lai CK |title=A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia |volume=35 |issue=8 |pages=582–4 |issn=0304-4602 |journal=Annals of the Academy of Medicine, Singapore |url=http://www.annals.edu.sg/pdf/35VolNo8Aug2006/V35N8p582.pdf |format=Free full text]

ee also

* Inborn errors of metabolism

References

External Links

*RareDiseases|158|Sarcosinemia