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Title: Glutaric aciduria type 2, late onset type in thai siblings with myopathy
Authors: Pornswan Wasant
Chulaluck Kuptanon
Nithiwat Vattanavicharn
Somporn Liammongkolkul
Pisanu Ratanarak
Tumtip Sangruchi
Seiji Yamaguchi
Mahidol University
Shimane University
Keywords: Medicine;Neuroscience
Issue Date: 1-Oct-2010
Citation: Pediatric Neurology. Vol.43, No.4 (2010), 279-282
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.
ISSN: 08878994
Appears in Collections:Scopus 2006-2010

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