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sarcosinemia

Pronunciation: sar'ko-si-ne'me-a

Definition: 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.

Synonym(s): hypersarcosinemia

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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