2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease

Brain Dev. 2004 Jan;26(1):12-4. doi: 10.1016/s0387-7604(03)00071-8.

Abstract

We describe a further case of recently reported 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a disorder of isoleucine metabolism. The development of pronounced brain atrophy and symmetrical alterations of the basal ganglia were observed and the importance of specific enzymatic tests is emphasized, which should be performed if urinary metabolites suggest impaired catabolism of isoleucine.

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases
  • Alcohol Oxidoreductases / deficiency*
  • Amino Acid Metabolism, Inborn Errors / pathology
  • Amino Acid Metabolism, Inborn Errors / physiopathology*
  • Brain / pathology*
  • Child, Preschool
  • Humans
  • Hydroxybutyrates / urine
  • Infant
  • Infant, Newborn
  • Isoleucine / metabolism*
  • Magnetic Resonance Imaging
  • Neurodegenerative Diseases / etiology
  • Neurodegenerative Diseases / physiopathology*

Substances

  • Hydroxybutyrates
  • Isoleucine
  • 2-methyl-3-hydroxybutyric acid
  • Alcohol Oxidoreductases
  • 3-Hydroxyacyl CoA Dehydrogenases
  • 2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase