d-2-Hydroxyglutaric aciduria was documented in a newborn who presented with seizures, hypotonia, cortical blindness, a movement disorder, and developmental delay. Her clinical presentation differs from that of patients with l-2-hydroxyglutaric aciduria and a single previously reported patient with d-2-hydroxyglutaric aciduria. Cerebrospinal fluid levels of γ-aminobutyric acid were elevated, while biogenic amine metabolites were normal. The movement disorder in our patient and in those with l-2-hydroxyglutaric aciduria suggests involvement of the basal ganglia in the disease process. Prenatal diagnosis of an affected fetus was accomplished during a subsequent pregnancy.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Clinical Neurology