A rare case of Mitochondrial Fatty Acid Oxidation Defect- Systemic Primary Carnitine Deficiency

Manisha Garg, Sneha Dhruw, Dhananjay Kumar Mangal, Chanchal Singhal, Khurshida Khan


Systemic primary carnitine deficiency (SPCD) also known as, carnitine transporter deficiency (CTD) is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane, leading to a variety of symptoms such as chronic muscle weakness, cardiomyopathy and hypoglycaemia and liver dysfunction. The first suspicion of SPCD in a patient with a non-specific presentation is an extremely low plasma carnitine level, confirmed by demonstrating reduced carnitine transport in skin fibroblasts from the patient. Treatment for SPCD involves high dose carnitine supplementation, which must be continued for life. We report a case of Systemic primary carnitine deficiency with classical clinical & laboratory characteristics.

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