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@ARTICLE{Repp:140094,
      author       = {Repp, Birgit M and Mastantuono, Elisa and Alston, Charlotte
                      L and Schiff, Manuel and Haack, Tobias B and Rötig, Agnes
                      and Ardissone, Anna and Lombès, Anne and Catarino, Claudia
                      B and Diodato, Daria and Schottmann, Gudrun and Poulton,
                      Joanna and Burlina, Alberto and Jonckheere, An and Munnich,
                      Arnold and Rolinski, Boris and Ghezzi, Daniele and Rokicki,
                      Dariusz and Wellesley, Diana and Martinelli, Diego and
                      Wenhong, Ding and Lamantea, Eleonora and Ostergaard, Elsebet
                      and Pronicka, Ewa and Pierre, Germaine and Smeets, Hubert J
                      M and Wittig, Ilka and Scurr, Ingrid and de Coo, Irenaeus F
                      M and Moroni, Isabella and Smet, Joél and Mayr, Johannes A
                      and Dai, Lifang and de Meirleir, Linda and Schuelke, Markus
                      and Zeviani, Massimo and Morscher, Raphael J and McFarland,
                      Robert and Seneca, Sara and Klopstock, Thomas and Meitinger,
                      Thomas and Wieland, Thomas and Strom, Tim M and Herberg,
                      Ulrike and Ahting, Uwe and Sperl, Wolfgang and Nassogne,
                      Marie-Cecile and Ling, Han and Fang, Fang and Freisinger,
                      Peter and Van Coster, Rudy and Strecker, Valentina and
                      Taylor, Robert W and Häberle, Johannes and Vockley, Jerry
                      and Prokisch, Holger and Wortmann, Saskia},
      title        = {{C}linical, biochemical and genetic spectrum of 70 patients
                      with {ACAD}9 deficiency: is riboflavin supplementation
                      effective?},
      journal      = {Orphanet journal of rare diseases},
      volume       = {13},
      number       = {1},
      issn         = {1750-1172},
      address      = {London},
      publisher    = {BioMed Central},
      reportid     = {DZNE-2020-06416},
      pages        = {120},
      year         = {2018},
      abstract     = {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 $(50\%$ not surviving the first 2 years)
                      comparing to patients with a later presentation (more than
                      $90\%$ surviving 10 years). The most common clinical
                      findings were cardiomyopathy $(85\%),$ muscular weakness
                      $(75\%)$ and exercise intolerance $(72\%).$ Interestingly,
                      severe intellectual deficits were only reported in one
                      patient and severe developmental delays in four patients.
                      More than $70\%$ of the patients were able to perform the
                      same activities of daily living when compared to peers.Our
                      data show that riboflavin treatment improves complex I
                      activity in the majority of patient-derived fibroblasts
                      tested. This effect was also reported for most of the
                      treated patients and is mirrored in the survival data. In
                      the patient group with disease-onset below 1 year of age, we
                      observed a statistically-significant better survival for
                      patients treated with riboflavin.},
      keywords     = {Acidosis: genetics / Acidosis: metabolism / Acidosis:
                      pathology / Activities of Daily Living / Acyl-CoA
                      Dehydrogenase: deficiency / Acyl-CoA Dehydrogenase: genetics
                      / Acyl-CoA Dehydrogenase: metabolism / Amino Acid
                      Metabolism, Inborn Errors: genetics / Amino Acid Metabolism,
                      Inborn Errors: metabolism / Amino Acid Metabolism, Inborn
                      Errors: pathology / Cardiomyopathy, Hypertrophic: genetics /
                      Cardiomyopathy, Hypertrophic: metabolism / Cardiomyopathy,
                      Hypertrophic: pathology / Electron Transport Complex I:
                      metabolism / Female / Humans / Male / Mitochondrial
                      Diseases: genetics / Mitochondrial Diseases: metabolism /
                      Mitochondrial Diseases: pathology / Muscle Weakness: drug
                      therapy / Muscle Weakness: genetics / Muscle Weakness:
                      metabolism / Muscle Weakness: pathology / Prognosis /
                      Riboflavin: therapeutic use / Acyl-CoA Dehydrogenase (NLM
                      Chemicals) / Electron Transport Complex I (NLM Chemicals) /
                      Riboflavin (NLM Chemicals)},
      cin          = {AG Levin},
      ddc          = {610},
      cid          = {I:(DE-2719)1111016},
      pnm          = {899H - Addenda (POF3-899H)},
      pid          = {G:(DE-HGF)POF3-899H},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30025539},
      pmc          = {pmc:PMC6053715},
      doi          = {10.1186/s13023-018-0784-8},
      url          = {https://pub.dzne.de/record/140094},
}