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

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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]. 2021 Dec. 31 [cited 2024 Mar. 29];41(4):862-4. Available from: https://biomedicineonline.org/index.php/home/article/view/833

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