A therapeutic regimen for 3-hydroxyisobutyryl-CoA hydrolase deficiency with exercise-induced dystonia

Eur J Paediatr Neurol. 2019 Sep;23(5):755-759. doi: 10.1016/j.ejpn.2017.11.004. Epub 2017 Nov 23.

Abstract

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a recently described disease resulting from mutations in HIBCH with no effective treatment. Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D). After treatment for 1 year with a low-valine diet, both clinical symptoms and brain lesions improved substantially. We propose that HIBCH deficiency should be considered in the differential diagnosis for patients with exercise-induced dystonia, particularly if bilateral symmetrical lesions in the globus pallidus are present. A low-valine diet is a potentially promising treatment for HIBCH deficiency.

Keywords: 3-Hydroxyisobutyryl-CoA hydrolase; Exercise-induced dystonia; Globus pallidus hyperintensities; HIBCH deficiency; Magnetic resonance imaging; valine metabolism.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / diet therapy*
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnostic imaging
  • Amino Acid Metabolism, Inborn Errors / diet therapy*
  • Child
  • Dystonic Disorders / complications
  • Dystonic Disorders / diet therapy*
  • Exercise*
  • Female
  • Globus Pallidus / diagnostic imaging
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Magnetic Resonance Imaging
  • Mutation, Missense
  • Thiolester Hydrolases / deficiency*
  • Thiolester Hydrolases / genetics
  • Treatment Outcome

Substances

  • Thiolester Hydrolases
  • 3-hydroxyisobutyryl-CoA hydrolase

Supplementary concepts

  • Beta-Hydroxyisobutyryl CoA Deacylase Deficiency