Systemic Primary Carnitine Deficiency
NORD gratefully acknowledges Joshua Banago, NORD Editorial Intern from the University of Notre Dame, and Ayman W El-Hattab, MD, FAAP, FACMG, Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates, for assistance in the preparation of this report.
Synonyms of Systemic Primary Carnitine Deficiency
- carnitine transporter deficiency
- carnitine uptake defect
- carnitine uptake deficiency
Systemic primary carnitine deficiency (CDSP) is a rare metabolic disorder in which the body cannot properly process fats into energy. Carnitine functions to carry fatty acids obtained through diet to the energy centers in muscle cells (mitochondria). A deficiency of carnitine results in accumulation of fats in the liver, muscle, and heart. Symptoms of CDSP in infants can include poor feeding, tiredness, irritability and low blood sugar (hypoglycemia) but CDSP can also present later in childhood with heart and muscle abnormalities. Some people with CDSP are diagnosed as adults and have mild or no symptoms. CDSP is caused by mutations in the SLC22A5
gene and inherited as an autosomal recessive genetic condition.
CDSP is treatable by the daily use of L-carnitine supplements. Without early detection and treatment, an affected child may experience low blood sugar (hypoglycdemia), seizures, heart muscle weakness (cardiomyopathy) that can be life-threatening. Newborn screening is available for CDSP.
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