Abstract
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.
Original language | English (US) |
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Pages (from-to) | 49-53 |
Number of pages | 5 |
Journal | Pediatric Neurology |
Volume | 10 |
Issue number | 1 |
DOIs | |
State | Published - Feb 1994 |
Externally published | Yes |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Developmental Neuroscience
- Clinical Neurology