%0 Journal Article
%A Repp, Birgit M
%A Mastantuono, Elisa
%A Alston, Charlotte L
%A Schiff, Manuel
%A Haack, Tobias B
%A Rötig, Agnes
%A Ardissone, Anna
%A Lombès, Anne
%A Catarino, Claudia B
%A Diodato, Daria
%A Schottmann, Gudrun
%A Poulton, Joanna
%A Burlina, Alberto
%A Jonckheere, An
%A Munnich, Arnold
%A Rolinski, Boris
%A Ghezzi, Daniele
%A Rokicki, Dariusz
%A Wellesley, Diana
%A Martinelli, Diego
%A Wenhong, Ding
%A Lamantea, Eleonora
%A Ostergaard, Elsebet
%A Pronicka, Ewa
%A Pierre, Germaine
%A Smeets, Hubert J M
%A Wittig, Ilka
%A Scurr, Ingrid
%A de Coo, Irenaeus F M
%A Moroni, Isabella
%A Smet, Joél
%A Mayr, Johannes A
%A Dai, Lifang
%A de Meirleir, Linda
%A Schuelke, Markus
%A Zeviani, Massimo
%A Morscher, Raphael J
%A McFarland, Robert
%A Seneca, Sara
%A Klopstock, Thomas
%A Meitinger, Thomas
%A Wieland, Thomas
%A Strom, Tim M
%A Herberg, Ulrike
%A Ahting, Uwe
%A Sperl, Wolfgang
%A Nassogne, Marie-Cecile
%A Ling, Han
%A Fang, Fang
%A Freisinger, Peter
%A Van Coster, Rudy
%A Strecker, Valentina
%A Taylor, Robert W
%A Häberle, Johannes
%A Vockley, Jerry
%A Prokisch, Holger
%A Wortmann, Saskia
%T Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
%J Orphanet journal of rare diseases
%V 13
%N 1
%@ 1750-1172
%C London
%I BioMed Central
%M DZNE-2020-06416
%P 120
%D 2018
%X Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy.We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. We found 34 known and 18 previously unreported variants in ACAD9. No patients harbored biallelic loss of function mutations, indicating that this combination is unlikely to be compatible with life. Causal pathogenic variants were distributed throughout the entire gene, and there was no obvious genotype-phenotype correlation. Most of the patients presented in the first year of life. For this subgroup the survival was poor (50
%K Acidosis: genetics
%K Acidosis: metabolism
%K Acidosis: pathology
%K Activities of Daily Living
%K Acyl-CoA Dehydrogenase: deficiency
%K Acyl-CoA Dehydrogenase: genetics
%K Acyl-CoA Dehydrogenase: metabolism
%K Amino Acid Metabolism, Inborn Errors: genetics
%K Amino Acid Metabolism, Inborn Errors: metabolism
%K Amino Acid Metabolism, Inborn Errors: pathology
%K Cardiomyopathy, Hypertrophic: genetics
%K Cardiomyopathy, Hypertrophic: metabolism
%K Cardiomyopathy, Hypertrophic: pathology
%K Electron Transport Complex I: metabolism
%K Female
%K Humans
%K Male
%K Mitochondrial Diseases: genetics
%K Mitochondrial Diseases: metabolism
%K Mitochondrial Diseases: pathology
%K Muscle Weakness: drug therapy
%K Muscle Weakness: genetics
%K Muscle Weakness: metabolism
%K Muscle Weakness: pathology
%K Prognosis
%K Riboflavin: therapeutic use
%K Acyl-CoA Dehydrogenase (NLM Chemicals)
%K Electron Transport Complex I (NLM Chemicals)
%K Riboflavin (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:30025539
%2 pmc:PMC6053715
%R 10.1186/s13023-018-0784-8
%U https://pub.dzne.de/record/140094