D-2-hydroxyglutaric aciduria 1

Common Name(s)

D-2-hydroxyglutaric aciduria 1

D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by {3:Chalmers et al. (1980)}. Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype was characterized ({13:van der Knaap et al., 1999}). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation.
 

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Condition Specific Organizations

Following organizations serve the condition "D-2-hydroxyglutaric aciduria 1" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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