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CC BY-NC-ND 4.0 · Ibnosina Journal of Medicine and Biomedical Sciences 2021; 13(03): 148-152
DOI: 10.4103/ijmbs.ijmbs_125_20
Case Report

Delayed presentation of late-onset glutamic aciduria type II: A disease of infancy presenting in an adult

Authors

  • Abdul Arida

    1   Department of Internal Medicine, Sheikh Shakhbout Medical City, Abu Dhabi

  • Wala Hamed

    1   Department of Internal Medicine, Sheikh Shakhbout Medical City, Abu Dhabi

  • Omar Khaddam

    1   Department of Internal Medicine, Sheikh Shakhbout Medical City, Abu Dhabi

  • Hussain Alawadhi

    2   Department of Medicine, Sheikh Khalifa Medical City, Ajman

  • Jozef Hertecant

    3   Department of Pathology, Tawam Hospital, Al-Ain, United Arab Emirates
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Glutamic aciduria Type II is an uncommon inborn error of metabolism. It has a rare late-onset variant that can present in adulthood with recurrent lethargy, vomiting, metabolic acidosis, and myopathy. This is a case of a 27-year-old previously healthy gentleman who presented with complains of daily vomiting and generalized body aches that started 3 days after initiation of strenuous exercise and poor oral intake. Initially found to have high anion gap metabolic acidosis, elevated creatinine kinase levels and hypoglycaemia that improved with intravenous fluids. He later deteriorated and he was transferred to the intensive care unit for intubation and monitoring of his mental status. Labs were evident of hyperammonaemia not responding to lactulose. Further management with continuous venovenous hemodialysis (CVVHD) for ammonia clearance was required. This presentation raised the suspicion for metabolic disease and work up done was suggestive of Type II glutaric aciduria. After a long stay of 28 days in the hospital the patient recovered his mental status and was discharged home on carnitine and riboflavin. The diagnosis was confirmed with further genetic testing. He was later found to have concurrent celiac disease that was confirmed by duodenal biopsy.

Key-words:

Glutamic aciduria Type II - inborn errors of metabolism - late-onset variant - metabolic acidosis

Financial support and sponsorship

Nil.




Publication History

Received: 01 October 2020

Accepted: 09 June 2021

Article published online:
14 July 2022

© 2021. The Libyan Authority of Scientific Research and Technologyand the Libyan Biotechnology Research Center. All rights reserved. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License,permitting copying and reproductionso long as the original work is given appropriate credit. Contents may not be used for commercial purposes, oradapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Sedel F. Les maladies métaboliques héréditaires en neurologie adulte. Revue Neurologique 2013;169:S63-9.
  • 2 Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, et al. The frequencies of different inborn errors of metabolism in adult metabolic centres: Report from the SSIEM adult metabolic physicians group. JIMD Rep 2016;27:85-91.
  • 3 Przyrembel H, Wendel U, Becker K, Bremer HJ, Bruinvis L, Ketting D, et al. Glutaric aciduria type II: Report on a previously undescribed metabolic disorder. Clin Chim Acta 1976;66:227-39.
  • 4 Frerman FE, Goodman SI. Defects of electron transfer flavoprotein and elec-tron transfer flavoprotein-ubiquinone oxidoreductase: Glutaric aciduria type II. In: The Metabolic and Molecular Bases of Inherited Disease. Vol. 8. New York: McGraw-Hill; 2001. p. 2357e65.
  • 5 Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 2003;22:12-23.
  • 6 Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, et al. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 2001;18:169-89.
  • 7 Ozand PT, Gascon GG. Organic acidurias: A review. Part 1. J Child Neurol 1991;6:196-219.
  • 8 Vianey-Liaud C, Divry P, Gregersen N, Mathieu M. The inborn errors of mitochondrial fatty acid oxidation. J Inherit Metab Dis 1987;10 Suppl 1:159-200.
  • 9 Turnbull DM, Bartlett K, Eyre JA, Gardner-Medwin D, Johnson MA, Fisher J, et al. Lipid storage myopathy due to glutaric aciduria type II: Treatment of a potentially fatal myopathy. Dev Med Child Neurol 1988;30:667-72.
  • 10 Mongini T, Doriguzzi C, Palmucci L, De Francesco A, Bet L, Manfredi L, et al. Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case. Eur Neurol 1992;32:170-6.
  • 11 Morris AA, Spierkoetter U. Disorders of mitochondrial fatty acid oxidation and related metabolic pathways. In: Saudubray JM, van den Berghe G, Walter JH, editors. Inborn Metabolic Diseases. 5th ed. Heidelberg: Springer-Verlag Berlin; 2011.
  • 12 Ersoy E, Rama D, Ünal Ö, Sivri S, Topeli A. 2015. Glutaric aciduria type 2 presenting with acute respiratory failure in an adult. Res Med Case Rep 2015;15:92-4.
  • 13 Dusheiko G, Kew MC, Joffe BI, Lewin JR, Mantagos S, Tanaka K, et al. Recurrent hypoglycaemia associated with glutaric aciduria type II in an adult. N Engl J Med 1979;301:1405-9.
  • 14 Gregersen N, Kolvraa S, Rasmussen K, Christensen E, Brandt NJ, Hansen FH, et al. Biochemical studies in patients with defects in acyl-CoA metabolism and sarcosine metabolism: Another possible case of glutaric aciduria type II. J Inherit Metab Dis 1980;3:67-72.
  • 15 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;20:120-8.
  • 16 de Visser M, Scholte HR, Schutgens RB, Bolhuis PA, Luyt-Houwen IE, Vaandrager-Verduin MH, et al. Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. Neurology 1986;36:367-72.
  • 17 Liang WC, Ohkuma A, Hayashi YK, Lopez LC, Hirano M, Nonaka I, et al. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase efficiency. Neuromuscular Disord 2009;19:212e6.
  • 18 Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle PD. editors. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw Hill Inc.; 1995. p. 1501-33.
  • 19 Mooy PD, Przyrembel H, Giesberts MA, Scholte HR, Blom W, van Gelderen HH. Glutaric aciduria type II: Treatment with riboflavine, carnitine and insulin. Eur J Pediatr 1984;143:92-5.