A rare presentation of a rare metabolic disorder – Multiple Acyl CoA dehydrogenase deficiency presenting as rhabdomyolysis and renal failure
Document Type
Article
Publication Title
Biomedicine (India)
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.
First Page
862
Last Page
864
DOI
10.51248/.V41I4.833
Publication Date
12-31-2021
Recommended Citation
Chakraborty, Arpita; Stanley, Weena; and Prabhu, M. Mukhyaprana, "A rare presentation of a rare metabolic disorder – Multiple Acyl CoA dehydrogenase deficiency presenting as rhabdomyolysis and renal failure" (2021). Open Access archive. 2145.
https://impressions.manipal.edu/open-access-archive/2145
