Primary Carnitine Deficiency Overview
Learn About Primary Carnitine Deficiency
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through food, is used by cells to process fats and produce energy.
Variants (also called mutations) in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids become the most important energy source for the heart and other muscles.
Primary carnitine deficiency occurs in approximately 1 in 100,000 newborns worldwide. In Japan, this disorder affects 1 in every 40,000 newborns.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Allan Lund practices in Copenhagen, Denmark. Mr. Lund is rated as an Elite expert by MediFind in the treatment of Primary Carnitine Deficiency. His top areas of expertise are Primary Carnitine Deficiency, Alpha Mannosidosis, Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), and Bone Marrow Transplant.
Frederic Vaz practices in Amsterdam, Netherlands. Mr. Vaz is rated as an Elite expert by MediFind in the treatment of Primary Carnitine Deficiency. His top areas of expertise are Barth Syndrome, Primary Carnitine Deficiency, Zellweger Syndrome, Cerebrotendinous Xanthomatosis, and Laryngectomy.
Yiming Lin practices in Quanzhou, China. Mr. Lin is rated as an Elite expert by MediFind in the treatment of Primary Carnitine Deficiency. His top areas of expertise are Primary Carnitine Deficiency, Citrullinemia, Urea Cycle Disorders (UCD), and Holocarboxylase Synthetase Deficiency.
Published Date: November 27, 2023
Published By: National Institutes of Health