2026-06-06T17:42:41Zhttps://riuma.uma.es/rest/oai/request

oai:riuma.uma.es:10630/323182026-02-03T11:35:31Zcom_10630_2254col_10630_37953

00925njm 22002777a 4500 dc Garone, Caterina author Donati, Maria Alice author Sacchini, Michele author Garcia Diaz, Beatriz author Bruno, Claudio author Calvo, Sarah author Mootha, Vamsi K author DiMauro, Salvatore author 2013 Importance Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of “MitoExome” sequencing (deep sequencing of the entire mitochondrial genome and the coding exons of >1000 nuclear genes encoding the mitochondrial proteome) allowed us to reveal an unusual clinical variant of complex I deficiency due to a novel homozygous mutation in ACAD9. The patient had an infantile-onset but slowly progressive encephalomyopathy and responded favorably to riboflavin therapy. Observation A 13-year-old boy had exercise intolerance, weakness, and mild psychomotor delay. Muscle histochemistry showed mitochondrial proliferation, and biochemical analysis revealed severe complex I deficiency (15% of normal). The level of complex I holoprotein was reduced as determined by use of Western blot both in muscle (54%) and in fibroblasts (57%). Conclusions and Relevance The clinical presentation of complex I deficiency due ACAD9 mutations spans from fatal infantile encephalocardiomyopathy to mild encephalomyopathy. Our data support the notion that ACAD9 functions as a complex I assembly protein. ACAD9 is a flavin adenine dinucleotide–containing flavoprotein, and treatment with riboflavin is advisable. Garone C, Donati MA, Sacchini M, et al. Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9. JAMA Neurol. 2013;70(9):1177–1179. doi:10.1001/jamaneurol.2013.3197 https://hdl.handle.net/10630/32318 10.1001/jamaneurol.2013.3197 Patología mitocondrial Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9