hydroxyglutaric aciduria

ヒドロキシグルタル酸尿症

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• 1. 有機酸血症 organic acidemias
• 2. アレキサンダー病 alexander disease
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• 4. 高IgD症候群：病態生理 hyperimmunoglobulin d syndrome pathophysiology
• 5. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis

English Journal

• Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.

• Lamp J, Keyser B, Koeller DM, Ullrich K, Braulke T, Muhlhausen C.SourceFrom the Children's Hospital, Department of Biochemistry, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany and.
• The Journal of biological chemistry.2011 May 20;286(20):17777-84. Epub 2011 Mar 29.
• The inherited neurodegenerative disorder glutaric aciduria type 1 (GA1) results from mutations in the gene for the mitochondrial matrix enzyme glutaryl-CoA dehydrogenase (GCDH), which leads to elevations of the dicarboxylates glutaric acid (GA) and 3-hydroxyglutaric acid (3OHGA) in brain and blood.
• PMID 21454630

• PMID 21575345

Japanese Journal

• Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

• Journal of human genetics 59(4), 216-222, 2014-04
• NAID 40020043194

• L-2-Hydroxyglutaric aciduria presenting with severe autistic features

• Brain & development 30(4), 305-307, 2008-04-01
• NAID 10025169970

• 遺伝子解析により確定診断した L-2-hydroxyglutaric aciduria の1例

• 日本先天代謝異常学会雑誌 23(1), 90, 2007-10-23
• NAID 10019771661

Related Links

• 2-hydroxyglutaric aciduria - Genetics Home Reference

2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and ...

• L-2-hydroxyglutaric aciduria - Conditions - GTR - NCBI

2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2 ...

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hydroxyglutaric aciduria

• D-2ヒドロキシグルタル酸尿症 D-2-hydroxyglutaric aciduria