Literature DB >> 15824356

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.

A Dinopoulos1, S Kure, G Chuck, K Sato, D L Gilbert, Y Matsubara, T Degrauw.   

Abstract

Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.

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Year:  2005        PMID： 15824356     DOI： 10.1212/01.WNL.0000156800.23776.40

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  6 in total

1.  Glycine receptors support excitatory neurotransmitter release in developing mouse visual cortex.

Authors:  Portia A Kunz; Alain C Burette; Richard J Weinberg; Benjamin D Philpot
Journal:  J Physiol       Date:  2012-09-17       Impact factor: 5.182

2.  Diagnosis and treatment of neurotransmitter disorders.

Authors:  Phillip L Pearl; Thomas R Hartka; Jacob Taylor
Journal:  Curr Treat Options Neurol       Date:  2006-11       Impact factor: 3.598

3.  Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

Authors:  Junko Kanno; Tim Hutchin; Fumiaki Kamada; Ayumi Narisawa; Yoko Aoki; Yoichi Matsubara; Shigeo Kure
Journal:  J Med Genet       Date:  2007-03       Impact factor: 6.318

Review 4.  Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

Authors:  F Sedel; N Baumann; J-C Turpin; O Lyon-Caen; J-M Saudubray; D Cohen
Journal:  J Inherit Metab Dis       Date:  2007-08-10       Impact factor: 4.982

5.  Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.

Authors:  Timothy F Tramontana; Theodore E Wilson; Bryan E Hainline
Journal:  JIMD Rep       Date:  2021-03-31

6.  Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Authors:  Michael A Swanson; Curtis R Coughlin; Gunter H Scharer; Heather J Szerlong; Kendra J Bjoraker; Elaine B Spector; Geralyn Creadon-Swindell; Vincent Mahieu; Gert Matthijs; Julia B Hennermann; Derek A Applegarth; Jennifer R Toone; Suhong Tong; Kristina Williams; Johan L K Van Hove
Journal:  Ann Neurol       Date:  2015-08-10       Impact factor: 10.422
  6 in total

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