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

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.

• Publication year

  2017

• Venue

  European journal of paediatric neurology

• Publication date

  2017-11-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/J.EJPN.2017.11.004PMID 31679561
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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