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

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

Research output: Contribution to journalArticle

33 Citations (Scopus)

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 - Jan 1 1994
Externally publishedYes

Fingerprint

Seizures
Newborn Infant
Movement Disorders
Cortical Blindness
Basal Ganglia Diseases
Aminobutyrates
Muscle Hypotonia
Biogenic Amines
Prenatal Diagnosis
Cerebrospinal Fluid
Fetus
Pregnancy
2-Hydroxyglutaricaciduria

ASJC Scopus subject areas

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

Cite this

Craigen, W. J., Jakobs, C., Sekul, E., 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

d-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. / Craigen, William J.; Jakobs, Cornelis; Sekul, Elizabeth; Levy, Moise L.; Gibson, K. Michael; Butler, Ian J.; Herman, Gail E.

In: Pediatric Neurology, Vol. 10, No. 1, 01.01.1994, p. 49-53.

Research output: Contribution to journalArticle

Craigen, WJ, Jakobs, C, Sekul, E, Levy, ML, Gibson, KM, Butler, IJ & Herman, GE 1994, 'd-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction', Pediatric Neurology, vol. 10, no. 1, pp. 49-53. https://doi.org/10.1016/0887-8994(94)90067-1
Craigen, William J. ; Jakobs, Cornelis ; Sekul, Elizabeth ; Levy, Moise L. ; Gibson, K. Michael ; Butler, Ian J. ; Herman, Gail E. / d-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. In: Pediatric Neurology. 1994 ; Vol. 10, No. 1. pp. 49-53.
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