A rare presentation of a rare metabolic disorder – Multiple Acyl CoA dehydrogenase deficiency presenting as rhabdomyolysis and renal failure

Authors

  • Arpita Chakraborty Department of General Medicine, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal-576104, Karnataka, India
  • Weena Stanley Department of General Medicine, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal-576104, Karnataka, India
  • M. Mukhyaprana Prabhu Department of General Medicine, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal-576104, Karnataka, India

DOI:

https://doi.org/10.51248/.v41i4.833

Keywords:

Multiple acyl-CoA dehydrogenase deficiency, glutaric aciduria type II, rhabdomyolysis, riboflavin, carnitine

Abstract

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare metabolic disorder of oxidation of amino acids and fatty acids with an autosomal recessive inheritance. Patients usually present symptoms of MADD in the neonatal period, though it can also be diagnosed in the late adulthood. We present a 36-year-old male with MADD who had sensory axonal neuropathy, rhabdomyolysis metabolic acidosis, lactic acidosis, hypoglycemia and low ketone bodies and renal failure. Early diagnosis and prompt management with carnitine and riboflavin supplements can help in better management of this rare metabolic disorder.

References

Prasun, P. Multiple acyl-CoA dehydrogenase deficiency. GeneReviews®[Internet]. 2020 Jun 18.

Chautard, R., Laroche-Raynaud, C., Lia, A. S., Chazelas, P., Derouault, P., Sturtz, F., et al., A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene. BMC medical genomics. 2020 Dec; 13(1): 1-6.

Ding, M., Liu, R., Qiubo, L., Zhang., Kong, Q. Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review. Medicine. 2020 Sep 11; 99(37).

Frerman, F. E. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase Glutaric aciduria type II. The metabolic and molecular basis of inherited disease. 2001: 2357-2365.

Grünert, S. C. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet journal of rare diseases. 2014 Dec; 9(1): 1-8.

Olsen, R. K., Olpin, S. E., Andresen, B. S., Miedzybrodzka, Z. H., Pourfarzam, M., Merinero, B., et al., ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007 Aug 1; 130(8): 2045-2054.

Mumtaz, H. A., Gupta, V., Singh, P., Marwaha, R. K., Khandelwal, N. MR imaging findings of glutaric aciduria type II. Singapore Med J. 2010 Apr 1; 51(4): 69-71.

Nanjundappa, G. B., Desai, G., Chaturvedi, S. K. Glutaric acidemia type II associated with bipolar affective disorder. German J Psychiatry. 2011 Jan 1; 14: 48-50.

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Published

2021-12-31

How to Cite

1.
Chakraborty A, Stanley W, Prabhu MM. A rare presentation of a rare metabolic disorder – Multiple Acyl CoA dehydrogenase deficiency presenting as rhabdomyolysis and renal failure. Biomedicine [Internet]. 2021Dec.31 [cited 2022Jan.20];41(4):862-4. Available from: https://biomedicineonline.org/index.php/home/article/view/833