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A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.

Authors: Tai, Hongfei  Zhang, Zaiqiang 
Citation: Tai H and Zhang Z, BMC Neurol. 2015 Jul 25;15:117. doi: 10.1186/s12883-015-0369-2.
Pubmed: (View Article at PubMed) PMID:26208971
DOI: Full-text: DOI:10.1186/s12883-015-0369-2


BACKGROUND: L-2-hydroxyglutaric aciduria is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene. We describe some novel clinical and molecular characteristics found in a boy with L-2-hydroxyglutaric aciduria.
CASE PRESENTATION: We report an 8-year-old Chinese boy, who had characteristic developmental delay, ataxia and acrocephaly as the main symptoms. He also complained of paroxysmal headache and palpitation. Brain image revealed a symmetrical, extensive subcortical white matter lesion. Urine test for organic acids showed a significantly increased level of 2-hydroxyglutaric acid (106.74 mmol/mol cre, normal range 0.6¿~¿5.9 mmol/mol cre), leading to the diagnosis of L-2-hydroxyglutaric aciduria. Genetic testing uncovered two heterozygous missense mutations in L-2-hydroxyglutarate dehydrogenase gene: c.169G¿>¿A in exon 2 and c.542G¿>¿T in exon 5, not hitherto been described.
CONCLUSION: Novel gene mutation and associated clinical symptoms can contribute for the understanding and identification of this rare disease. Possible genotype-phenotype correlation waits for further study.

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RGD Object Information
RGD ID: 13506814
Created: 2018-02-20
Species: All species
Last Modified: 2018-02-20
Status: ACTIVE



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