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Mirhosseini, N., Taghiyar, S., Saatchi, M., Eshaghiyeh, Z. (2020). A Five-Year-Old Boy with GAII Administered with High-Dose Riboflavin: A Case Report. Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(1), 40-43. doi: 10.18502/wjpn.v3i1.5065
Naser Ali Mirhosseini; Sana Taghiyar; Mahdieh Saatchi; Zeynab Eshaghiyeh. "A Five-Year-Old Boy with GAII Administered with High-Dose Riboflavin: A Case Report". Shahid Sadoughi University of Medical Sciences- Journal Management System, 3, 1, 2020, 40-43. doi: 10.18502/wjpn.v3i1.5065
Mirhosseini, N., Taghiyar, S., Saatchi, M., Eshaghiyeh, Z. (2020). 'A Five-Year-Old Boy with GAII Administered with High-Dose Riboflavin: A Case Report', Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(1), pp. 40-43. doi: 10.18502/wjpn.v3i1.5065
Mirhosseini, N., Taghiyar, S., Saatchi, M., Eshaghiyeh, Z. A Five-Year-Old Boy with GAII Administered with High-Dose Riboflavin: A Case Report. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2020; 3(1): 40-43. doi: 10.18502/wjpn.v3i1.5065

A Five-Year-Old Boy with GAII Administered with High-Dose Riboflavin: A Case Report

World Journal of Peri and Neonatology
Article 7, Volume 3, Issue 1, March 2020, Pages 40-43    PDF (311.29 K)
Document Type: Case Report
DOI: 10.18502/wjpn.v3i1.5065
Authors
Naser Ali Mirhosseini* 1; Sana Taghiyar2; Mahdieh Saatchi3; Zeynab Eshaghiyeh3
1Department of Pediatrics, Shahid Sadoughi Hospital, Shahid sadoughi University of Medical Sciences, Yazd, Iran
2Department of Clinical Biochemistry, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Abstract
Background: Inborn errors of metabolism can cause a number of morbidities and mortality in pediatric population. Glutaric aciduria II (GAII) or multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare (i.e. <1:50 000) disorder of mitochondrial fatty acid oxidation (FAO) and amino acid metabolism. It is inherited in an autosomal recessive manner. Congenital deficiency of electron transfer flavoproteins and ETF dehydrogenase genes cause an illness that combines the features of impaired fatty acid oxidation and impaired oxidation of several aminoacides. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) permits detection of neonates with glutaricaciduria-Type II.
Case Presentation: We reported a five-year-old boy with muscle weakness of lower limb and inability to walk (myopathy), seizure due to hypoglycemia (as a result of prolonged fasting), hepatomegaly and rhabdomyolysis that treated with high dose riboflavin and he is well in follow up.
Conclusion: Early diagnosis of mild cases and treatment with high dose riboflavin may have better prognosis.
Keywords
GAII; Fatty Acid Oxidation; MS/ MS
References
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