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.
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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.
Families see hope in a cannabis law-change; Families are living in hope that a change in the laws regarding use of cannabis for medicinal purposes can bring much-needed relief to their youngsters. David Williamson reports
For example, increased plasma glycine may be because of the metabolic disorder nonketotic hyperglycinemia (NKH) but also secondary to valproate therapy.
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria
Savery et al., "Glycine decarboxylase deficiency causes neural tube defects and features of nonketotic hyperglycinemia in mice," Nature Communications, vol.
Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol.
Non-Ketotik Hiperglisinemide Mekanik Ventilasyondan Ayirmada Ketamin Etkin mi?/The Probable Effect of Ketamine on Ceasing from the Mechanical Ventilation
The youngster, who is visually impaired and has delayed development, has a disorder called Nonketotic hyperglycinemia which means he suffers seizures.
Disabled children receive nearly [pounds sterling]30,000 helping hand from fund-raising North East company; Year-long support from Meldrum Construction Services provides huge boost to The Chronicle's Sunshine Fund
Jack Duffy is one of only seven children in the UK diagnosed with nonketotic hyperglycinemia (NKH), an inherited condition which attacks his brain.
Mum in battle to import drug that could save her boy
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).
A case of hypertriglyceridaemia (?transient infantile hypertriglyceridaemia) with associated hyperglycinaemia and carnitine deficiency
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.
Brave Joe, 4, is mascot at FA Cup final; ILLNESS
Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab 2005; 86: 61-9.
Valproate-induced worsening of seizures in an infant/ Valproat tedavisi ile nobetleri siklasan sutcocugu: tanisal bir ipucu
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.
Potential and pitfalls of NBS, and the reference lab's role
Jack, of High Heaton, suffers from nonketotic hyperglycinemia (NKH), an inherited condition which left him suffering up to 60 seizures a day.
Family of Heaton lad Jack Duffy battling on as he learns to deal with rare illness; Newcastle family tell how Christmas will be made extra special for their one year old son as he battles a disease which causes him to have seizures

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