title: A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 6 Tiantan Xili, dongcheng District, Beijing, China. feier34161@163.com.
authors.forename: Hongfei
authors.initials: H
authors.lastname: Tai
authors.affiliation: Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 6 Tiantan Xili, dongcheng District, Beijing, China. zhangzq007@sohu.com.
authors.forename: Zaiqiang
authors.initials: Z
authors.lastname: Zhang
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000097:blood / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D005820:Genetic Testing; D005838:Genotype; D005977:Glutarates / Q000097:blood; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D020125:Mutation, Missense; D059906:Neuroimaging; D010641:Phenotype
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate; D000429:Alcohol Oxidoreductases; C023858:2-hydroxyglutarate dehydrogenase