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Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.
Pediatr Neurol. 2010 Oct; 43(4):279-82.PN

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.

Authors+Show Affiliations

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. sipws@mahidol.ac.thNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20837308

Citation

Wasant, Pornswan, et al. "Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy." Pediatric Neurology, vol. 43, no. 4, 2010, pp. 279-82.
Wasant P, Kuptanon C, Vattanavicharn N, et al. Glutaric aciduria type 2, late onset type in Thai siblings with myopathy. Pediatr Neurol. 2010;43(4):279-82.
Wasant, P., Kuptanon, C., Vattanavicharn, N., Liammongkolkul, S., Ratanarak, P., Sangruchi, T., & Yamaguchi, S. (2010). Glutaric aciduria type 2, late onset type in Thai siblings with myopathy. Pediatric Neurology, 43(4), 279-82. https://doi.org/10.1016/j.pediatrneurol.2010.05.018
Wasant P, et al. Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy. Pediatr Neurol. 2010;43(4):279-82. PubMed PMID: 20837308.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Glutaric aciduria type 2, late onset type in Thai siblings with myopathy. AU - Wasant,Pornswan, AU - Kuptanon,Chulaluck, AU - Vattanavicharn,Nithiwat, AU - Liammongkolkul,Somporn, AU - Ratanarak,Pisanu, AU - Sangruchi,Tumtip, AU - Yamaguchi,Seiji, PY - 2010/05/10/received PY - 2010/05/11/revised PY - 2010/05/19/accepted PY - 2010/9/15/entrez PY - 2010/9/15/pubmed PY - 2011/1/22/medline SP - 279 EP - 82 JF - Pediatric neurology JO - Pediatr. Neurol. VL - 43 IS - 4 N2 - 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. SN - 1873-5150 UR - https://www.unboundmedicine.com/medline/citation/20837308/Glutaric_aciduria_type_2_late_onset_type_in_Thai_siblings_with_myopathy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(10)00246-8 DB - PRIME DP - Unbound Medicine ER -