D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction

Pediatr Neurol. 1994 Feb;10(1):49-53. doi: 10.1016/0887-8994(94)90067-1.

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 gamma-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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Basal Ganglia Diseases / genetics
  • Basal Ganglia Diseases / urine
  • Blindness / genetics
  • Blindness / urine
  • Brain Diseases, Metabolic / genetics*
  • Brain Diseases, Metabolic / urine
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Developmental Disabilities / genetics
  • Developmental Disabilities / urine
  • Epilepsies, Myoclonic / genetics*
  • Epilepsies, Myoclonic / urine
  • Female
  • Genes, Recessive
  • Glutarates / urine*
  • Humans
  • Infant
  • Pregnancy
  • Prenatal Diagnosis
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / urine

Substances

  • Glutarates
  • alpha-hydroxyglutarate