sarcosinemia

A disorder of amino acid metabolism due to deficiency of sarcosine dehydrogenase, causing the sarcosine level to rise in blood plasma and be excreted in the urine; some affected infants fail to thrive, are irritable, may have muscle tremors, and have retarded motor and mental development; autosomal recessive inheritance. SYN: hypersarcosinemia.

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sar·co·si·ne·mia (sahr″ko-sĭ-neґme-ə) accumulation of sarcosine in the blood along with elevated excretion in the urine, caused by deficiency of activity of the enzyme sarcosine dehydrogenase. The enzyme deficiency can be an autosomal recessive disorder caused by mutation in the SARDH gene (locus: 9q33-q34), which encodes the apoenzyme, or it can be caused by a defect in electron transfer flavoprotein (q.v.) or by severe folate deficiency.