d-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction

William J. Craigen, Cornelis Jakobs, Elizabeth A. Sekul, Moise L. Levy, K. Michael Gibson, Ian J. Butler, Gail E. Herman

Research output: Contribution to journalArticle

35 Scopus citations

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 languageEnglish (US)
Pages (from-to)49-53
Number of pages5
JournalPediatric Neurology
Volume10
Issue number1
DOIs
StatePublished - Feb 1994
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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    Craigen, W. J., Jakobs, C., Sekul, E. A., Levy, M. L., Gibson, K. M., Butler, I. J., & Herman, G. E. (1994). d-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. Pediatric Neurology, 10(1), 49-53. https://doi.org/10.1016/0887-8994(94)90067-1