A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Journal Of Medical Genetics 2000, 37: 669. PMID: 10978358, PMCID: PMC1734685, DOI: 10.1136/jmg.37.9.669.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAnemia, MegaloblasticBase SequenceCarrier ProteinsConsanguinityDNADNA Mutational AnalysisElectron Transport Complex IFamily HealthFemaleHumansMaleMembrane Transport ProteinsMitochondria, MuscleMuscle, SkeletalMutationNADH, NADPH OxidoreductasesPedigreePoint MutationPyruvate Dehydrogenase ComplexPyruvate Dehydrogenase Complex Deficiency DiseaseThiamineConceptsComplex I activityEarly-onset autosomal recessive disorderHigh-dose thiamine supplementationBrain MRI lesionsThiamine-responsive megaloblastic anemiaAutosomal recessive disorderI activityMRI lesionsClinical featuresMegaloblastic anemiaSkin biopsiesThiamine supplementationThiamine deficiencyTypical triadSLC19A2 geneRetinal degenerationHigh dosesConsanguineous parentsShort statureMitochondrial energy productionMitochondrial abnormalitiesSevere deficiencyRecessive disorderRespiratory chain complex IChain complex I