Publication: Glutaric aciduria type 2, late onset type in thai siblings with myopathy
Issued Date
2010-10-01
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ISSN
08878994
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2-s2.0-77956577321
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Mahidol University
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SCOPUS
Bibliographic Citation
Pediatric Neurology. Vol.43, No.4 (2010), 279-282
Suggested Citation
Pornswan Wasant, Chulaluck Kuptanon, Nithiwat Vattanavicharn, Somporn Liammongkolkul, Pisanu Ratanarak, Tumtip Sangruchi, Seiji Yamaguchi Glutaric aciduria type 2, late onset type in thai siblings with myopathy. Pediatric Neurology. Vol.43, No.4 (2010), 279-282. doi:10.1016/j.pediatrneurol.2010.05.018 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/29521
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Title
Glutaric aciduria type 2, late onset type in thai siblings with myopathy
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Abstract
Reported here is a novel presentation of late onset glutaric aciduria type 2 in two Thai siblings. A 9-year-old boy presented with gradual onset of proximal muscle weakness for 6 weeks. The initial diagnosis was postviral myositis, and then polymyositis. Electromyography and nerve conduction velocity testing indicated a myopathic pattern. Muscle biopsy revealed excessive accumulation of fat. Acylcarnitine profiling led to the diagnosis of glutaric aciduria type 2. Immunoblot analysis of electron-transferring-flavoprotein and its dehydrogenase electron-transferring-flavoprotein dehydrogenase led to mutation analysis of the ETFDH gene, which revealed two different pathogenic mutations in both alleles and confirmed the diagnosis of glutaric aciduria type 2 caused by electron-transferring-flavoprotein dehydrogenase deficiency. The boy recovered completely after treatment. Later, his younger sibling became symptomatic; the same diagnosis was confirmed, and treatment was similarly effective. Acylcarnitine profiling was a crucial investigation in making this diagnosis in the presence of normal urine organic acid findings. Late onset glutaric aciduria type 2, a rare cause of muscle weakness in children, should be included in the differential diagnosis of myopathy. © 2010 by Elsevier Inc. All rights reserved.