Glutaric aciduria type 2, late onset type in thai siblings with myopathy

• Main Authors: Pornswan Wasant, Chulaluck Kuptanon, Nithiwat Vattanavicharn, Somporn Liammongkolkul, Pisanu Ratanarak, Tumtip Sangruchi, Seiji Yamaguchi
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine; Neuroscience
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/29521

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 velocit...