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Article

Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.

Journal of inherited metabolic disease - 1 Dec 2009

Haliloglu G, Temucin C M, Oguz K K, Celiker A, Coskun T, Sass J O, Fischer J, Topcu M

Abstract excerpt

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...

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PMID: 19169842
DOI: 10.1007/s10545-009-0933-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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