Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects

The Japanese Journal of Human Genetics
S KureK Narisawa

Abstract

Nonketotic hyperglycinemia (NKH) is a metabolic disorder with autosomal recessive inheritance, causing severe, frequently lethal, neurological symptoms in the neonatal period. The metabolic lesion of NKH is in the glycine cleavage system (GCS), a complex enzyme system with four enzyme components; P-, T-, H-, and L-protein. The enzymatic analysis revealed that 86% of the patients with NKH are deficient of P-protein activity. The cDNA clones encoding all four components were isolated and their primary structures were determined. Several mutations have been identified in P- and T-protein genes: One missense mutation, S564I, in P-protein gene accounts for 70% of the mutant alleles in Finland where the incidence of NKH is unusually high. The immunochemical and in situ hybridization analyses revealed that the strong GCS expression was observed in rat hippocampus, olfactory bulbus, and cerebellum. The distribution resembled that of N-methyl-D-aspartic acid (NMDA) receptor which has binding site for glycine. It is, therefore, suggested that the neurological disturbance in NKH may be caused by excitoneurotoxicity through the NMDA receptor allosterically activated by high concentration of glycine. Based on the hypothesis the NMDA antagon...Continue Reading

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Citations

Oct 3, 2008·Cellular and Molecular Neurobiology·Guilhian LeipnitzMoacir Wajner
Mar 16, 2007·Journal of Medical Genetics·Junko KannoShigeo Kure
Apr 25, 2006·Annals of Neurology·Shigeo KureYoichi Matsubara
Jan 5, 2008·Indian Journal of Pediatrics·Rahul P Bhamkar, Prisca Colaco
Jan 26, 2013·Journal of Child Neurology·Jennifer M LoveShagun Aggarwal
Nov 26, 1999·Journal of Child Neurology·A H JacksonH L Levy
Sep 15, 2012·Korean journal of pediatrics·Ji Hun ShinWon Soon Park
Oct 15, 2009·Journal of Neural Transmission·Marina Sorrentino Hernandes, Lanfranco R P Troncone
Aug 1, 2002·Pediatric Research·Angèle ViolaPatrick J Cozzone
Dec 3, 2004·Annals of Saudi Medicine·Devabrata RoySaleh Al-Oqiel
Jun 19, 2014·Molecular and Cellular Biochemistry·Alana Pimentel MouraGuilhian Leipnitz
Apr 17, 2010·Neurochemistry International·Estela Natacha Brandt BusanelloMoacir Wajner

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