Sarcosinemia
From SNPedia
Sarcosinemia is an inherited metabolic disorder characterized by an increased concentration of sarcosine in blood plasma and urine. An autosomal recessive condition, it is reported as being relatively benign.Wikipedia
OMIM entry: OMIM.268.900
Variations in the sarcosine dehydrogenase (SARDH) gene have been reported to cause sarcosinemia.[PMID 22825317] The reported variants are:
- V71F (currently lacking an Rs #)
- rs149481147, aka P287L
- rs140559739, aka R514X
- rs149391396, aka R723X
