Open AccessA rare presentation of a rare metabolic disorder – Multiple Acyl CoA dehydrogenase deficiency presenting as rhabdomyolysis and renal failure
Author(s) -
Arpita Chakraborty,
Weena Stanley,
Manjunath Prabhu
Publication year - 2021
Publication title -
biomedicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.106
H-Index - 9
ISSN - 0970-2067
DOI - 10.51248/.v41i4.833
Subject(s) - rhabdomyolysis , medicine , metabolic acidosis , metabolic disorder , presentation (obstetrics) , carnitine , ketone bodies , pediatrics , hypoglycemia , gastroenterology , endocrinology , surgery , metabolism , insulin
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.