3‐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 ResearchMeSH KeywordsAmino Acid Metabolism, Inborn ErrorsDiagnosis, DifferentialDNA Mutational AnalysisGlutaratesHumansMetabolism, Inborn ErrorsMitochondrial DiseasesNetherlandsRetrospective StudiesUrinalysisConceptsMetabolic disordersMitochondrial dysfunctionElevated urinary excretionRoutine metabolic screeningPatient cohortUrinary excretionPatientsMitochondrial DNA depletionMetabolic screeningHydratase deficiencyInborn errorsRelated pathologiesUrine samplesDisordersAciduriaDysfunctionDNA depletionLeucine degradationRespiratory chain complex deficienciesMitochondrial disordersCommon denominatorComplex deficiencySERAC1Consistent featureOPA3