RT Journal Article
T1 Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9
A1 Garone, Caterina
A1 Donati, Maria Alice
A1 Sacchini, Michele
A1 Garcia Diaz, Beatriz
A1 Bruno, Claudio
A1 Calvo, Sarah
A1 Mootha, Vamsi K
A1 DiMauro, Salvatore
K1 Patología mitocondrial
AB 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.
PB American Medical Association
YR 2013
FD 2013
LK https://hdl.handle.net/10630/32318
UL https://hdl.handle.net/10630/32318
LA eng
NO 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
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 25 ene 2026