A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment
Nouws J, Wibrand F, van den Brand M, Venselaar H, Duno M, Lund A, Trautner S, Nijtmans L, Østergard E. A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment. JIMD Reports 2013, 12: 37-45. PMID: 23996478, PMCID: PMC3897792, DOI: 10.1007/8904_2013_242.Peer-Reviewed Original ResearchComplex I deficiencyI deficiencyAge 7 weeksHigher lactate levelsSevere hypertrophic cardiomyopathyMonths of ageNew pathogenic mutationsI protein levelsPatient fibroblastsACAD9 mutationsComplex I protein levelsCardiogenic shockIntercurrent illnessRespiratory insufficiencyMuscle weaknessHypertrophic cardiomyopathyRiboflavin treatmentFrequent causeHomozygous missense mutationLactate levelsRiboflavin supplementationPatientsRespiratory chain activityPathogenic mutationsProtein levels