Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria

Haliloglu G., TEMUÇİN Ç. M. , Oguz K. K. , Celiker A., Coskun T., Sass J. O. , ...More

JOURNAL OF INHERITED METABOLIC DISEASE, vol.32, no.1, 2009 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 1
  • Publication Date: 2009
  • Doi Number: 10.1007/s10545-009-0933-2
  • Journal Indexes: Science Citation Index Expanded, Scopus


D-2-hydroxyglutaric aciduria (D-2-HGA; OMIM 600721) is a rare autosomal recessive neurometabolic disorder with a wide clinical spectrum. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy with hypotonia, delayed cerebral visual development, cardiomyopathy and facial dysmorphic features. The mild phenotype has a more variable clinical expression with hypotonia and developmental delay. We present peripheral neuropathy as an additional clinical and electrophysiological feature in a 16-year-old boy with a homozygous missense mutation in exon 3 of the D-2-hydroxyglutarate dehydrogenase gene (D2HGDH) at position c.458T>C. This mutation results in replacement of a methionine residue, which was highly conserved during evolution, by threonine (p.Met153Thr).