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. , ...Daha Fazla

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.32, sa.1, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Konu: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1007/s10545-009-0933-2


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).