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 levels3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Wortmann S, Kluijtmans L, Rodenburg R, Sass J, Nouws J, van Kaauwen E, Kleefstra T, Tranebjaerg L, de Vries M, Isohanni P, Walter K, Alkuraya F, Smuts I, Reinecke C, van der Westhuizen F, Thorburn D, Smeitink J, Morava E, Wevers R. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Journal Of Inherited Metabolic Disease 2013, 36: 913-921. PMID: 23355087, DOI: 10.1007/s10545-012-9579-6.Peer-Reviewed Original ResearchConceptsMetabolic disordersMitochondrial dysfunctionElevated urinary excretionRoutine metabolic screeningPatient cohortUrinary excretionPatientsMitochondrial DNA depletionMetabolic screeningHydratase deficiencyInborn errorsRelated pathologiesUrine samplesDisordersAciduriaDysfunctionDNA depletionLeucine degradationRespiratory chain complex deficienciesMitochondrial disordersCommon denominatorComplex deficiencySERAC1Consistent featureOPA3