sarcosinemia

(redirected from Sarcosinaemia)

sarcosinemia

 [sahr″ko-sĭ-ne´me-ah]
an inborn error of metabolism due to a defect of the enzyme that breaks down sarcosine, resulting in elevated levels of sarcosine in the blood. Clinical manifestations include poor feeding in an infant with failure to thrive and developmental delays; however, no consistent clinical syndrome has been reported. Called also hypersarcosinemia.

sar·co·si·ne·mi·a

(sar'kō-si-nē'mē-ă), [MIM*268900]
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

sarcosinemia

/sar·co·si·ne·mia/ (sahr″ko-sĭ-ne´me-ah)
1. an aminoacidopathy characterized by accumulation and excretion of sarcosine, sometimes associated with neurologic abnormalities.
2. accumulation of sarcosine in the blood.

sarcosinemia

(sär′kə-sə-nē′mē-ə)
n.
A hereditary disorder of amino acid metabolism, marked by elevated levels of sarcosine in blood plasma and excretion of sarcosine in the urine, failure to thrive, irritability, muscle tremors, and impaired motor and mental development.

sarcosinemia

an inborn error of metabolism caused by a defect of the enzyme that breaks down sarcosine, resulting in elevated levels of sarcosine in the blood. Clinical manifestations include poor feeding in an infant with failure to thrive and developmental delays; however, no consistent clinical syndrome has been reported.