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Nonketotic Hyperglycinemia

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An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.

Also Known As:

Hyperglycinemia, Nonketotic; Hyperglycinemia, Nonketotic, Type I; Hyperglycinemia, Nonketotic, Type II; Hyperglycinemia, Nonketotic, Type III; Non-ketotic Hyperglycinemia; Nonketotic Hyperglycinemia, Type I; Nonketotic Hyperglycinemia, Type II; Nonketotic Hyperglycinemia, Type III; Type I Nonketotic Hyperglycinemia; Type II Nonketotic Hyperglycinemia; Type III Nonketotic Hyperglycinemia; Hyperglycinemia, Non-ketotic; Hyperglycinemias, Non-ketotic; Hyperglycinemias, Nonketotic; Non ketotic Hyperglycinemia; Non-ketotic Hyperglycinemias; Nonketotic Hyperglycinemias

Networked: 162 relevant articles (7 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Seizures (Seizure)
2.	Epilepsy (Aura)
3.	Urinary Tract Infections (Urinary Tract Infection)
4.	Propionic Acidemia
5.	Maple Syrup Urine Disease

Experts

1.	Kure, Shigeo: 9 articles (01/2012 - 07/2002)
2.	Applegarth, Derek A: 4 articles (10/2015 - 03/2002)
3.	Toone, Jennifer R: 4 articles (10/2015 - 03/2002)
4.	Korman, Stanley H: 4 articles (07/2007 - 10/2002)
5.	Matsubara, Yoichi: 4 articles (07/2006 - 08/2003)
6.	Matsubara, Y: 4 articles (04/2005 - 03/2000)
7.	Kure, S: 4 articles (04/2005 - 03/2000)
8.	Lee, Wang-Tso: 3 articles (02/2014 - 01/2004)
9.	Suzuki, Y: 3 articles (10/2001 - 01/2001)
10.	Sakata, Y: 3 articles (10/2001 - 03/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Nonketotic Hyperglycinemia:

1.	N-Methylaspartate (NMDA)IBA 03/01/1998 - "Also, the recognition of milder, atypical variants of classic nonketotic hyperglycinemia has stimulated efforts to evaluate the therapeutic efficacy of these strategies to antagonize the NMDA receptor complex." 03/01/1998 - "Current status of NMDA antagonist interventions in the treatment of nonketotic hyperglycinemia." 01/01/1991 - "Nonketotic hyperglycinemia: treatment with NMDA antagonist and consideration of neuropathogenesis." 01/01/1995 - "Efficacy of tryptophan for the treatment of nonketotic hyperglycinemia: a new therapeutic approach for modulating the N-methyl-D-aspartate receptor." 01/01/1991 - "The NMDA receptor antagonist, ketamine, was administered to a patient with nonketotic hyperglycinemia; he demonstrated some improvement in hyperirritability, voluntary movement, and electroencephalographic findings. "
2.	Dextromethorphan (Levomethorphan)FDA LinkGeneric 06/01/1996 - "Efficacy of low-dose dextromethorphan in the treatment of nonketotic hyperglycinemia." 11/01/1993 - "Dextromethorphan in nonketotic hyperglycinemia." 02/01/1993 - "Dextromethorphan in infantile nonketotic hyperglycinemia." 01/01/2004 - "Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan." 04/01/1998 - "We administered benzoate (at doses of 500 to 750 mg/kg/day) and dextromethorphan (at doses of 3.5 to 22.5 mg/kg/day) to four infants with nonketotic hyperglycinemia with follow-up of 3 months to 6 years. "
3.	Glycine (Aminoacetic Acid)FDA LinkGeneric 08/01/2002 - "Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia." 08/01/1980 - "Studies of glycine metabolism and transport in fibroblasts from patients with nonketotic hyperglycinemia." 02/01/2014 - "The recognition of variant nonketotic hyperglycinemia is important for physicians evaluating patients with abnormalities in glycine as this will affect the genetic causation and genetic counselling, and provide prognostic information on the expected phenotypic course. " 01/01/2014 - "Nonketotic hyperglycinemia is an inborn error of glycine metabolism. " 03/01/2013 - "Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of glycine metabolism. "
4.	Benzoates (Benzoate)IBA 06/01/1986 - "The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia." 04/01/1998 - "We administered benzoate (at doses of 500 to 750 mg/kg/day) and dextromethorphan (at doses of 3.5 to 22.5 mg/kg/day) to four infants with nonketotic hyperglycinemia with follow-up of 3 months to 6 years. " 04/01/1998 - "Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia." 12/04/1995 - "Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia." 07/01/1992 - "Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant."
5.	Ketamine FDA LinkGeneric 01/01/1991 - "The NMDA receptor antagonist, ketamine, was administered to a patient with nonketotic hyperglycinemia; he demonstrated some improvement in hyperirritability, voluntary movement, and electroencephalographic findings. " 07/01/2004 - "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. " 11/01/2009 - "Prospective treatment with oral sodium benzoate, the N-methyl-d-aspartate receptor antagonist ketamine, and dextromethorphan can favorably modify the early neonatal course of severe nonketotic hyperglycinemia, but does not prevent poor long-term outcomes."
6.	Benzoic Acid (Ucephan)FDA Link 04/16/1975 - "Urinary organic acid analysis in non-ketotic hyperglycinemia: non-specific occurrence of free benzoic acid, due to a beta-streptococcus infection." 08/01/2012 - "When glycine levels are pathologically high, as in congenital nonketotic hyperglycinemia, the glycine deportation system can be upregulated with pharmacological doses of benzoic acid to assist in normalization of glycine homeostasis. " 04/16/1975 - "The presence of free benzoic acid in the urine of a patient with non-ketotic hyperglycinemia was demonstrated to be due to a urinary tract infection with beta-streptococci (group B), and was eliminated by treatment with Penicillin G. "
7.	Tryptophan (L-Tryptophan)FDA Link 01/01/1995 - "Efficacy of tryptophan for the treatment of nonketotic hyperglycinemia: a new therapeutic approach for modulating the N-methyl-D-aspartate receptor."
8.	Penicillin G (Benzylpenicillin)FDA LinkGeneric 04/16/1975 - "The presence of free benzoic acid in the urine of a patient with non-ketotic hyperglycinemia was demonstrated to be due to a urinary tract infection with beta-streptococci (group B), and was eliminated by treatment with Penicillin G. "
9.	Glycine Dehydrogenase (Decarboxylating)IBA 11/01/2010 - "The diagnosis of nonketotic hyperglycinemia was made biochemically and was confirmed by genetic studies, which revealed two missense mutations (one not previously described) within the glycine decarboxylase gene, GLDC. " 01/01/2014 - "A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia." 12/01/2013 - "Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase." 06/01/2012 - "A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia." 06/01/2012 - "Two novel heterozygous missense mutations (c.1130C>T (p.A377V) and c.2081_2088del (p.A694DfsX11) in exons 8 and 18) in the glycine decarboxylase gene confirmed the diagnosis of nonketotic hyperglycinemia."
10.	glycine cleavage systemIBA 11/01/2009 - "Nonketotic hyperglycinemia is an inborn error of metabolism caused by mutations in genes encoding protein in the mitochondrial glycine cleavage system. " 09/02/2005 - "Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia." 04/20/2005 - "Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia." 08/01/2002 - "Nonketotic hyperglycinemia is a life-threatening disorder in neonates characterized by a deficiency of the glycine cleavage system. " 01/01/2001 - "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."

Therapies and Procedures

1.	Vagus Nerve Stimulation 03/01/2010 - "The efficacy of vagus nerve stimulation in intractable epilepsy associated with nonketotic hyperglycinemia in two children."
2.	Ketogenic Diet 09/01/2012 - "We report three cases affected by neonatal non ketotic hyperglycinemia and early myoclonic encephalopathy treated with ketogenic diet. " 09/01/2012 - "Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia."
3.	Perioperative Care 09/01/2010 - "Perioperative care of a child with non-ketotic hyperglycinemia."
4.	Ligation 09/01/2010 - "Screening of deletions in GLDC, using the multiplex ligation-dependent probe amplification method, and a (13)C breath test confirmed the diagnosis of nonketotic hyperglycinemia. "
5.	Aftercare (After-Treatment) 06/01/1986 - "In three patients with nonketotic hyperglycinemia, the oral administration of sodium benzoate in dosages designed to lower the cerebrospinal fluid concentration of glycine was followed by an abrupt change from frequent major seizures before treatment to no seizures, or only occasional minor ones, after treatment. "