This website provides information on patients with mutations in the SUCLA2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by biallelic mutations in the SUCLA2 gene is a multisystem disorder affecting mainly brain, muscle and nerve. Typically, this is an early infantile onset disease with a Leigh-like encephalomyopathy and a mitochondrial depletion syndrome with dystonia and deafness. The diagnosis is characterised at the metabolite level by increased lactate, methylmalonic acid and C4-dicarboxylic carnitine in body fluids.

Not all individuals with a mutation in the SUCLA2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SUCLA2 gene.

Ron A. Wevers, Professor emeritus, Clinical chemist, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands,

Ulrike Steuerwald, MD, MPH, Pediatrician, National Hospital of the Faroe Islands, Medical Center, Tórshavn, Faroe Islands, /

Carlo Dionisi-Vici, MD, Pediatrician, Division of Metabolism, Bambino Gesù Childrens Hospital IRCCS, Rome, Italy,

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