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- W1966678886 abstract "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)." @default.
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- W1966678886 date "2009-01-26" @default.
- W1966678886 modified "2023-10-10" @default.
- W1966678886 title "Peripheral neuropathy in a patient with <scp>d</scp> ‐2‐hydroxyglutaric aciduria" @default.
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- W1966678886 doi "https://doi.org/10.1007/s10545-009-0933-2" @default.
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