Mitochondrial myopathy with tRNALeu(UUR) mutation and complex I deficiency responsive to riboflavin

Deficiency of complex I (reduced nicotinamide adenine dinucleotide dehydrogenase-ubiquinone oxidoreductase) of the mitochondrial respiratory chain may be seen as a pure myopathy or as a neuromuscular disorder at presentation. Efficacy of long-term therapy for these disorders is yet to be established...

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Bibliographic Details
Published in:The Journal of pediatrics 1997-01, Vol.130 (1), p.138-145
Main Authors: Ogle, R.F. (Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.), Christodoulou, J, Fagan, E, Blok, R.B, Kirby, D.M, Seller, K.L, Dahl, H.H.M, Thorburn, D.R
Format: Article
Language:English
Subjects:
Biological and medical sciences
COMPLEMENT ALIMENTAIRE
Errors of metabolism
Medical sciences
Metabolic diseases
Proteins and glycoproteins
SUPLEMENTOS
VITAMINAS
VITAMINE
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Summary:Deficiency of complex I (reduced nicotinamide adenine dinucleotide dehydrogenase-ubiquinone oxidoreductase) of the mitochondrial respiratory chain may be seen as a pure myopathy or as a neuromuscular disorder at presentation. Efficacy of long-term therapy for these disorders is yet to be established. We report the case of a female patient with complex I deficiency and skeletal myopathy, who has had a sustained clinical response to riboflavin during 3 years of therapy. Molecular studies found no mutations in the putative flavin mononucleotide binding site in the 51 kd subunit of complex I, but a T-to-C transition at nucleotide 3250 in the mitochondrial DNA tRNA Leu(UUR) gene was identified. This mutation has been reported in one other family in that five members had fatigue with or without muscle weakness. There were also five cases of unexplained infant deaths in that family and two cases in the family reported here. Riboflavin therapy should be attempted in all patients with complex I deficiency when the clinical presentation is one of isolated skeletal myopathy
ISSN:0022-3476
1097-6833