Disease relevance of Hyperglycinemia, Nonketotic

• It was elevated in children with Reye's syndrome, tyrosinemia, homocystinuria, nonketotic hyperglycinemia, and ornithine transcarbamylase deficiency [1].
• Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia [2].
• These included cases of Iminoglycinuria (8), Hartnup trait (4), Nonketotic hyperglycinemia (2), Histidinemia (1), Cystathioninuria (5), Argininosuccinic aciduria (1), Maple Syrup Urine Disease (1), Diabetes Mellitus (1), Renal glycosuria (1) and Persistent galactosuria (3) [3].

High impact information on Hyperglycinemia, Nonketotic

• Glycine content was two to four times above normal in several brain regions, and brain glycine cleavage enzyme activity was absent in two patients dying of nonketotic hyperglycinemia [4].
• Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by the defects in the glycine cleavage system (GCS; EC 2.1.2.10), a multienzyme system that consists of four individual components [5].
• Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein [6].
• Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia [7].
• Nonketotic hyperglycinemia: pathophysiological role of NMDA-type excitatory amino acid receptors [8].

Chemical compound and disease context of Hyperglycinemia, Nonketotic

• Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia [9].
• Amino acid neurotransmission and initiation of puberty: evidence from nonketotic hyperglycinemia in a female infant and gonadotropin-releasing hormone secretion by rat hypothalamic explants [10].
• CSF lactate was also increased in 2 children with nonketotic hyperglycinemia [11].
• These data suggest that the presence of increased amounts of propionic acid in serum or urine does not necessarily rule out the possibility of nonketotic hyperglycinemia due to the decreased activity of the carboxylase enzyme [12].
• Valproate in nonketotic hyperglycinemia [13].

Biological context of Hyperglycinemia, Nonketotic

• A homology model of the human T-protein provides the structural framework for understanding the molecular mechanisms underlying the development of nonketotic hyperglycinemia due to missense mutations of the human T-protein [14].
• Glycine transport by human diploid fibroblasts--absence of a defect in cells from patients with nonketotic hyperglycinemia [15].
• Heterozygotes for nonketotic hyperglycinemia (NKH), a disorder of glycine degradation, have a slightly abnormal metabolism of glycine [16].
• Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia [17].

Anatomical context of Hyperglycinemia, Nonketotic

• Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio [18].
• Identical twins with nonketotic hyperglycinemia and dysplasia of the corpus callosum are described in support of the hypothesis that some patients with NKH have a genetic defect of the glycine degradation pathway resulting in abnormal corpus callosal development [19].
• The diagnosis of nonketotic hyperglycinemia was established on the typical clinical presentation, elevated glycine concentrations in body fluids and diminished glycine cleavage activity in liver tissue [20].

Gene context of Hyperglycinemia, Nonketotic

• Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation [21].
• Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia [22].
• Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia [14].
• These data indicate that GCS plays important roles in neurogenesis, and suggest that disturbance of neurogenesis induced by deficiency of GCS may be the main pathogenesis of nonketotic hyperglycinemia [23].
• The underlying disorders were tuberous sclerosis (one patient), Aicardi syndrome (one), nonketotic hyperglycinemia (one), and focal cortical dysplasia (one) [24].

References