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Case ReportCase Report
Open Access

A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia

Engin Kose, Uluc Yis, Semra Hiz and Nur Arslan
Neurosciences Journal April 2017, 22 (2) 131-133; DOI: https://doi.org/10.17712/nsj.2017.2.20160468
Engin Kose
From the Division of Pediatric Metabolism and Nutrition (Arslan, Kose), Division of Pediatric Neurology (Yis, Hiz), Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, and from Izmir Biomedicine and Genome Center (Arslan), Izmir, Turkey
MD
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Uluc Yis
From the Division of Pediatric Metabolism and Nutrition (Arslan, Kose), Division of Pediatric Neurology (Yis, Hiz), Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, and from Izmir Biomedicine and Genome Center (Arslan), Izmir, Turkey
MD
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Semra Hiz
From the Division of Pediatric Metabolism and Nutrition (Arslan, Kose), Division of Pediatric Neurology (Yis, Hiz), Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, and from Izmir Biomedicine and Genome Center (Arslan), Izmir, Turkey
MD
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Nur Arslan
From the Division of Pediatric Metabolism and Nutrition (Arslan, Kose), Division of Pediatric Neurology (Yis, Hiz), Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, and from Izmir Biomedicine and Genome Center (Arslan), Izmir, Turkey
MD, PhD
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References

  1. ↵
    1. Applegarth DA,
    2. Toone JR
    (2001) Nonketotic hyperglycinemia (glycine encephalopathy):laboratory diagnosis. Mol Genet Metab 74, 139–146.
  2. ↵
    1. Applegarth DA,
    2. Toone JR
    (2004) Glycine encephalopathy (nonketotic hyperglycinaemia):review and update. J Inherit Metab Dis 27, 417–422.
  3. ↵
    1. Valle D,
    2. Scriver CR
    1. Hamosh A,
    2. Johnston MV
    (2009) Nonketotic hyperglycinemia. in The Online Metabolic and Molecular Bases of Inherited Disease, eds Valle D, Scriver CR (McGraw-Hill, New York (NY)).
  4. ↵
    1. Hasegawa T,
    2. Shiga Y,
    3. Matsumoto A,
    4. Takeda A,
    5. Itoyama Y
    (2002) [Late-onset nonketotic hyperglycinemia:a case report]No To Shinkei, 54, 1068–1072, Japanese.
  5. ↵
    1. Kure S,
    2. Kato K,
    3. Dinopoulos A,
    4. Gail C,
    5. DeGrauw TJ,
    6. Christodoulou J,
    7. et al.
    (2006) Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat 27, 343–352.
    1. Kanno J,
    2. Hutchin T,
    3. Kamada F,
    4. Narisawa A,
    5. Aoki Y,
    6. Matsubara Y,
    7. et al.
    (2007) Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet 44, e69.
  6. ↵
    1. Takayanagi M,
    2. Kure S,
    3. Sakata Y,
    4. Kurihara Y,
    5. Ohya Y,
    6. Kajita M,
    7. et al.
    (2000) Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC):their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. Hum Genet 106, 298–305.
  7. ↵
    1. Toone JR,
    2. Applegarth DA,
    3. Kure S,
    4. Coulter-Mackie MB,
    5. Sazegar P,
    6. Kojima K,
    7. et al.
    (2002) Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). Mol Genet Metab 76, 243–249.
  8. ↵
    1. Hoover-Fong JE,
    2. Shah S,
    3. Van Hove JL,
    4. Applegarth D,
    5. Toone J,
    6. Hamosh A
    (2004) Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 63, 1847–1853.
  9. ↵
    1. Coppola G,
    2. Verrotti A,
    3. Ammendola E,
    4. Operto FF,
    5. Corte RD,
    6. Signoriello G,
    7. et al.
    (2010) Ketogenic diet for the treatment of catastrophic epileptic encephalopathies in childhood. Eur J Paediatr Neurol 14, 229–234.
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Neurosciences Journal: 22 (2)
Neurosciences Journal
Vol. 22, Issue 2
1 Apr 2017
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A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
Engin Kose, Uluc Yis, Semra Hiz, Nur Arslan
Neurosciences Journal Apr 2017, 22 (2) 131-133; DOI: 10.17712/nsj.2017.2.20160468

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A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
Engin Kose, Uluc Yis, Semra Hiz, Nur Arslan
Neurosciences Journal Apr 2017, 22 (2) 131-133; DOI: 10.17712/nsj.2017.2.20160468
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