This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH gene and is inherited in an autosomal recessive manner.[9883][9884] Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.[9885]
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