Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.
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).
Haliloglu
G
G
Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100, Ankara, Turkey.
Temucin
C M
CM
Oguz
K K
KK
Celiker
A
A
Coskun
T
T
Sass
J O
JO
Fischer
J
J
Topcu
M
M
D000293:Adolescent; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D055724:Electrophysiological Phenomena; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D009431:Neural Conduction / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype
D000429:Alcohol Oxidoreductases; C558760:D2HGDH protein, human