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

Arpita Chakraborty,M Mukhyaprana Prabhu,Weena Stanley

doi:10.51248/.v41i4.833

Arpita Chakraborty, M Mukhyaprana Prabhu + Show 1 more

Open Access

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

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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.

Highlights

Multiple acyl-CoA dehydrogenase deficiency (MADD), formerly known as glutaric aciduria type II, is a very rare metabolic disorder of oxidation of amino acids and fatty acids which manifests since birth
Three groups of symptoms usually appear in this disease which are related to the defect in the metabolism of Electron Transfer Flavoprotein (ETF)
He was diagnosed with MADD along with sensory axonal neuropathy, metabolic acidosis, lactic acidosis, hypoglycemia, low ketone bodies, rhabdomyolysis and renal failure

Summary

Introduction

Multiple acyl-CoA dehydrogenase deficiency (MADD), formerly known as glutaric aciduria type II, is a very rare metabolic disorder of oxidation of amino acids and fatty acids which manifests since birth. Those having type III MADD, develop common symptoms like weakness in muscles, intolerance to exercise, myalgia and rarely rhabdomyolysis. He was diagnosed with MADD along with sensory axonal neuropathy, metabolic acidosis, lactic acidosis, hypoglycemia, low ketone bodies, rhabdomyolysis and renal failure.

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Conclusion