nonketotic hyperglycinemia

non·ke·tot·ic hy·per·gly·cin·e·mi·a

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.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Two Welsh mums whose sons suffer from Nonketotic Hyperglycinemia (NKH) - a condition that can causes scores of seizures in a single day - want the opportunity to see if such a treatment might help their children.
For example, increased plasma glycine may be because of the metabolic disorder nonketotic hyperglycinemia (NKH) but also secondary to valproate therapy.
Savery et al., "Glycine decarboxylase deficiency causes neural tube defects and features of nonketotic hyperglycinemia in mice," Nature Communications, vol.
The youngster, who is visually impaired and has delayed development, has a disorder called Nonketotic hyperglycinemia which means he suffers seizures.
Jack Duffy is one of only seven children in the UK diagnosed with nonketotic hyperglycinemia (NKH), an inherited condition which attacks his brain.
Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder caused by a deficient glycine cleavage system, and generally results in elevated glycine levels in urine, blood, and cerebrospinal fluid (CSF).
Joseph Kendrick, who celebrated his fourth birthday yesterday, is one of only 500 people in the world with rare genetic disorder nonketotic hyperglycinemia. Wigan Athletic boss Roberto Martinez and his players were determined the youngster and his family would share their big day by choosing him as the team mascot for Wembley.
Glycine has not been shown to be so consistently elevated at 24 hours of age as to make this useful in screening for nonketotic hyperglycinemia, or NKH.