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Peripheral neuropathy in a patient with d ‐2‐hydroxyglutaric aciduria
Author(s) -
Haliloglu G.,
Temucin C. M.,
Oguz K. K.,
Celiker A.,
Coskun T.,
Sass J. O.,
Fischer J.,
Topcu M.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-0933-2
Subject(s) - peripheral neuropathy , medicine , peripheral , snap , endocrinology , computer science , diabetes mellitus , computer graphics (images)
Summary 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).