3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment

Pediatr Neurol. 2007 Jul;37(1):47-50. doi: 10.1016/j.pediatrneurol.2007.02.007.


We report the case of an 8-month-old infant with 3-hydroxy-3-methylglutaryl coenzyme A deficiency (OMIM 246450), an inborn error of leucine catabolism and ketogenesis, who presented with nonketotic hypoglycemia and seizures. He demonstrated reversible white matter changes on serial brain magnetic resonance imaging, together with clinical normalization, after initiation of a leucine-restricted diet.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Brain / metabolism
  • Brain / pathology*
  • Brain Diseases, Metabolic, Inborn / genetics
  • Brain Diseases, Metabolic, Inborn / metabolism*
  • Brain Diseases, Metabolic, Inborn / therapy
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Oxo-Acid-Lyases / deficiency*
  • Oxo-Acid-Lyases / genetics
  • Point Mutation


  • Oxo-Acid-Lyases
  • 3-hydroxy-3-methylglutaryl-coenzyme A lyase

Associated data

  • OMIM/246450