Dietary Management of Carnitine Transporter Deficiency with Carnitine Diet

Umair Mahmood a, Huma Arshad Cheema b, Saqib Mahmood c, Pervez Akhtar a, Shahid ur Rehman a

a.) University of Agriculture Faisalabad, Sub-campus,Toba Tek Singh,Pakistan

b.)Department of Pediatric Gastroenterology and Hepatology,TheChildren’s
Hospital and Institute of Child Health, Lahore, Pakistan

c.)Department of Genetics and Molecular Biology, University of Health Sciences,


Presenting Name: Umair Mahmood Presenting E-mail:

Presenting Contact #: 00923054712100


Fatty acid oxidation defects (FAOD) inherited as autosomal pattern are rare inborn errors of fatty acid metabolism with one of which is carnitine transporter deficiency (CTD). Prior to mitochondrial entry, fatty acids are conjugated with coenzyme A in the form of fatty acyl-CoA in cytosol which then can pass mitochondria through carnitine shuttle. In mitochondria, fatty acids are metabolized in various steps of oxidation yielding energy in the form of ATP, used directly as fuel by heart, skeletal muscle and gut. Deficiency of carnitine transporter leads to accumulation of fatty acids in blood which can cause serious health problems. People with CTD cannot metabolize fat for energy purpose. Symptoms of CTD appear either in infancy or in childhood. In infancy, symptoms are vomiting, diarrhea, nausea, irritable mood if untreated then enlarged heart, enlarged liver, swelling in brain, muscle weakness, if left untreated coma sometimes leading to death. Symptoms in children appear from age of one year to seven year with enlarged heart, muscle weakness if left untreated death may occur due to heart failure. The main treatment of persons with CTD is lifelong use of L-carnitine with low fat high carbohydrate diet. For both diet and medication, monitoring with blood tests is recommended. Careful management of CTD leads to healthy lives and reversal of cardiomegaly and hypotonia/ muscle weakness.

Keywords: FAOD, CTD, L-carnitine, Cardiomegaly, Hypotonia

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