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Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager.
J Child Neurol. 2015 Jan; 30(1):96-9.JC

Abstract

Late-onset glutaric aciduria type II has been described recently as a rare but treatable cause of proximal myopathy in teenagers and adults. It is an autosomal recessive disease affecting fatty acid, amino acid, and choline metabolism. This is usually a result of 2 defective flavoproteins: either electron transfer flavoprotein (ETF) or electron transfer flavoprotein-ubiquinone oxidoreductase (ETF:QO). We present a 14-year-old boy with a background of autistic spectrum disorder who presented with severe muscle weakness and significant rhabdomyolysis. Before the onset of muscle weakness, he was very active but was completely bedridden at presentation. Diagnosis was established quickly by urine organic acid and plasma acylcarnitine analysis. He has shown significant improvement after starting oral riboflavin supplementation and is now fully mobile. This case highlights that late-onset glutaric aciduria type II is an important differential diagnosis to consider in teenagers presenting with proximal myopathy and rhabdomyolysis and it may not be associated with hypoglycemia.

Authors+Show Affiliations

Department of Paediatric Neurology and Neurodisability, Dewsbury Hospital, Wakefield, United Kingdom.Department of Paediatric Neurology, Sheffield Children's Hospital, Wakefield, United Kingdom shanawaz@doctors.org.uk.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24453145

Citation

Prasad, Manish, and Shanawaz Hussain. "Glutaric Aciduria Type II Presenting as Myopathy and Rhabdomyolysis in a Teenager." Journal of Child Neurology, vol. 30, no. 1, 2015, pp. 96-9.
Prasad M, Hussain S. Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager. J Child Neurol. 2015;30(1):96-9.
Prasad, M., & Hussain, S. (2015). Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager. Journal of Child Neurology, 30(1), 96-9. https://doi.org/10.1177/0883073813516676
Prasad M, Hussain S. Glutaric Aciduria Type II Presenting as Myopathy and Rhabdomyolysis in a Teenager. J Child Neurol. 2015;30(1):96-9. PubMed PMID: 24453145.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager. AU - Prasad,Manish, AU - Hussain,Shanawaz, Y1 - 2014/01/21/ PY - 2014/1/24/entrez PY - 2014/1/24/pubmed PY - 2015/8/26/medline KW - glutaric aciduria type II KW - multiple acyl Co-A dehydrogenase deficiency KW - myopathy KW - rhabdomyolysis SP - 96 EP - 9 JF - Journal of child neurology JO - J. Child Neurol. VL - 30 IS - 1 N2 - Late-onset glutaric aciduria type II has been described recently as a rare but treatable cause of proximal myopathy in teenagers and adults. It is an autosomal recessive disease affecting fatty acid, amino acid, and choline metabolism. This is usually a result of 2 defective flavoproteins: either electron transfer flavoprotein (ETF) or electron transfer flavoprotein-ubiquinone oxidoreductase (ETF:QO). We present a 14-year-old boy with a background of autistic spectrum disorder who presented with severe muscle weakness and significant rhabdomyolysis. Before the onset of muscle weakness, he was very active but was completely bedridden at presentation. Diagnosis was established quickly by urine organic acid and plasma acylcarnitine analysis. He has shown significant improvement after starting oral riboflavin supplementation and is now fully mobile. This case highlights that late-onset glutaric aciduria type II is an important differential diagnosis to consider in teenagers presenting with proximal myopathy and rhabdomyolysis and it may not be associated with hypoglycemia. SN - 1708-8283 UR - https://www.unboundmedicine.com/medline/citation/24453145/Glutaric_aciduria_type_II_presenting_as_myopathy_and_rhabdomyolysis_in_a_teenager_ L2 - http://journals.sagepub.com/doi/full/10.1177/0883073813516676?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -