Year: 2021
Type: article
Study design: Case Report
Abstract: L-carnitine deficiency is a rare metabolic disorder that results in defective fatty acid oxidation which leads to hypoglycemia, myopathy and severe cardiac dysfunction. It can be presented by an acute respiratory failure and the Carnitine supplementation appears to be effective in correcting the symptoms and improving the lung function. We report a case of a 10 months old infant admitted in the intensive care department for acute respiratory failure; an early intubation was necessary but the infant couldn’t be weaned from the mechanical ventilation and a tracheostomy was performed after three months of failed extubation and weaning attempts. In addition to the persistence of the respiratory distress, recurrent hypoglycemia has been observed and a metablolic screening found an L-Carnitine deficiency. The supplementation allowed a rapid improvement.
Authors: El Kihel H, Lahlou M, Mhamat Emerick A, Elkoraichi A, Echcherif El Kettani S, Bentalha A
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4285466751