Carnitine-acylcarnitine translocase deficiency (CACTD) in an infant who presented with convulsions in Pediatrics Department of Punjab Rangers Teaching Hospital (PRTH), Lahore

Abstract

Carnitine-acylcarnitine translocase deficiency (CACTD) is an autosomal disorder of mitochondrial oxidation of fatty acids, occurring due to mutation in gene named SLC25A20. Due to this deficiency, the carnitine cycle is disrupted which is responsible for providing energy during fasting states and expenditure of high energy levels. Its deficiency causes hypoglycemia and hyperammonemia affecting functions of brain, liver, and heart, causing muscle weakness. An 8-month-old baby girl presented with the complaint of two episodes of generalized tonic-clonic convulsions, lasting for 5-10 seconds, which were self-resolving, without cyanosis or frothing from mouth. There was also complaint of loose stools. On detailed examination and lab diagnosis it was found that the patient had CACTD. The patient was given cornita syrup i.e. carnitine supplement along with iron supplement. Also, the mother was counselled to feed the baby frequently and not to keep baby hungry more than 4 hours.