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Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria
G Haliloglu1, C M Temucin, K K Oguz
1Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100, Ankara, Turkey.
Journal of Inherited Metabolic Disease
|January 27, 2009
Summary
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare neurometabolic disorder. This study identifies peripheral neuropathy as a new clinical feature, expanding the understanding of D-2-HGA
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare autosomal recessive neurometabolic disorder.
- It presents with a broad clinical spectrum, including severe early-onset epileptic encephalopathy and milder developmental delay.
Observation:
- Peripheral neuropathy is identified as an additional clinical and electrophysiological feature.
- This observation is based on a case study of a 16-year-old boy.
Findings:
- The patient has a homozygous missense mutation (c.458T>C, p.Met153Thr) in the D-2-hydroxyglutarate dehydrogenase gene (D2HGDH).
- This specific mutation affects a highly conserved methionine residue, replacing it with threonine.
Implications:
- This finding expands the known clinical manifestations of D-2-HGA.
- It highlights the importance of considering peripheral neuropathy in the diagnosis of D-2-HGA, especially in patients with D2HGDH mutations.
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