Folic acid dependent hypersarcosinaemia.
Hypersarcosinaemia is a rare inborn error of metabolism, caused by a deficiency of the sarcosine dehydrogenase complex with tetrahydrofolate as a formaldehyde acceptor needed for the sarcosine-glycine conversion. Prolonged therapy with folic acid on a hypersarcosinaemic patient resulted in a significant effect on the urinary excretion of sarcosine, leading to the conclusion that the patient has a folic acid dependent hypersarcosinaemia.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy*; D002648:Child; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use*; D006639:Histidine / Q000378:metabolism; D006801:Humans; D010088:Oxidoreductases; D012521:Sarcosine / Q000378:metabolism*; D014805:Vitamin B 12 / Q000627:therapeutic use
D006639:Histidine; D005492:Folic Acid; D010088:Oxidoreductases; D014805:Vitamin B 12; D012521:Sarcosine