Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

Eva Morava, Ulrike Steuerwald, Rosalba Carrozzo, Leo A J Kluijtmans, Frodi Joensen, René Santer, Carlo Dionisi-Vici, Ron A. Wevers

Research output: Contribution to journalArticle


Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Islands with a homozygous SUCLA2 splice site mutation. Elevated urinary 3-hydroxyisovaleric acid is a novel biochemical feature in patients. Progressive hearing loss, in combination with a characteristic metabolite profile (increased lactate, methylmalonic acid, C4-dicarboxylic carnitine, 3-hydroxyisovaleric acid) should lead the clinician to the correct diagnosis even in patients with only intermittent lactic acidemia. Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients.

Original languageEnglish
Pages (from-to)438-442
Number of pages5
Issue number6
Publication statusPublished - Nov 2009



  • 3-Hydroxyisovaleric acid
  • Citric acid cycle
  • Leigh-like encephalomyopathy
  • Methylmalonic aciduria
  • Mitochondrial DNA depletion
  • Succinyl-CoA synthase

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

Cite this