nonketotic hyperglycinemia

non·ke·tot·ic hy·per·gly·cin·e·mi·a

[MIM*238300] an inborn error of glycine metabolism, due to a deficiency of glycine dicarboxylase P protein (GCSP), a component of glycine cleavage system; characteristically overwhelming disease in the newborn period, with coma, seizures, and death, or, less often, gradual onset with failure to thrive, focal seizures, and mental retardation; there is massive elevation of plasma glycine, with increased levels in cerebrospinal fluid and urine; plasma hyperosmolality, severe dehydration occur without ketoacidosis; autosomal recessive inheritance; caused by mutation in the GCSP gene on chromosome 9p.

单词	nonketotic hyperglycinemia
释义	nonketotic hyperglycinemia non·ke·tot·ic hy·per·gly·cin·e·mi·a [MIM238300] an inborn error of glycine metabolism, due to a deficiency of glycine dicarboxylase P protein (GCSP), a component of glycine cleavage system; characteristically overwhelming disease in the newborn period, with coma, seizures, and death, or, less often, gradual onset with failure to thrive, focal seizures, and mental retardation; there is massive elevation of plasma glycine, with increased levels in cerebrospinal fluid and urine; plasma hyperosmolality, severe dehydration occur without ketoacidosis; autosomal recessive inheritance; caused by mutation in the GCSP* gene on chromosome 9p.
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