This autosomal-recessive inherited defect is characterized by excessive excretion of L-2-hydroxyglutaric acid in the urine. The precise molecular basis not well established. Clinical features: Presence of cognitive delay and epileptic seizures, Progressive ataxia, dysarthria, and extrapyramidal dysfunction. Added features of short stature and macrocrania Laboratory findings. Elevated 2-hydroxyglutaric acid in plasma, urine, and CSF. Elevated lysine in plasma and CSF.
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