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

Document Type : Case Report

Authors

1 Department of Pediatrics, Shahid Sadoughi Hospital, Shahid sadoughi University of Medical Sciences, Yazd, Iran

2 Department of Clinical Biochemistry, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

3 Department 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

References

  1. Bárbara BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, et al. Molecular and clinical investigations on portuguese patients with multiple acyl-CoA dehydrogenase deficiency. Curr Mol Med 2019; 19(7): 487-93.
  2. Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, et al. Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. Brain Dev 2019; 41(7): 638-42.
  3. van Rijt WJ, Ferdinandusse S, Giannopoulos P, Ruiter JPN, de Boer L, Bosch AM, et al. Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study. Journal of Inherited Metabolic Disease 2019; 42(5): 878-89.
  4. Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007; 130(Pt 8): 2045-54.
  5. Al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT. Glutaric aciduria type II:  observations in seven patients with neonatal- and late-onset disease. J Perinatol 2000; 20(2): 120-8.
  6. Fitzgerald M, Crushell E, Hickey C. Cyclic vomiting syndrome masking a fatal metabolic disease. Eur J Pediatr 2013; 172(5): 707-10.
  7. Sarafoglou K, Hoffmann GF, Roth KS. Pediatric endocrinology and inborn errors of metabolism. McGraw Hill Professional; second edition, 2017: 140.
  8. Fischer T, Och U, Marquardt T. Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report. Nutrition 2019; 60: 122-8.
World Journal of Peri and Neonatology
Volume 3, Issue 1
March 2020
Pages 40-43

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History

  • Receive Date: 30 December 2020
  • Accept Date: 30 December 2020

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