Carnitine-Acylcarnitine Translocase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood glucose (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).
Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are joined with carnitine, the CACT protein transports them into mitochondria. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
CACT deficiency is very rare; at least 30 cases have been reported.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Feel Well Health Center Of Southington PC
Kevin Greene is a primary care provider, practicing in Internal Medicine in Plantsville, Connecticut. He has been practicing medicine for over 31 years. Dr. Greene is rated as a Distinguished provider by MediFind in the treatment of Carnitine-Acylcarnitine Translocase Deficiency. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Peroxisomal Acyl-CoA Oxidase Deficiency, Primary Carnitine Deficiency, Carnitine-Acylcarnitine Translocase Deficiency, and Heavy Metal Poisoning. Dr. Greene is board certified in American Board Of Internal Medicine. Dr. Greene is currently accepting new patients.
UPMC Heart And Vascular Institute
Santosh Pandit, MD, specializes in cardiology and is board-certified by the American Board of Internal Medicine, the National Board of Echocardiography, and the Certification Board of Nuclear Cardiology. He practices at UPMC Heart and Vascular Institute and is affiliated with UPMC Passavant. Dr. Pandit received his medical degree from Dr. Shankarrao Chavan Government Medical College in Nanded, India and completed his residency at the University of Pittsburgh School of Medicine, followed by a fellowship at Deborah Heart and Lung Center. Dr. Pandit is rated as an Advanced provider by MediFind in the treatment of Carnitine-Acylcarnitine Translocase Deficiency. He is also highly rated in 36 other conditions, according to our data. His clinical expertise encompasses Heart Failure with Preserved Ejection Fraction (HFpEF), Atrial Fibrillation, Aortic Valve Stenosis, and Hypertension. Dr. Pandit is board certified in American Board Of Internal Medicine , American Board Of Internal Medicine , National Board Of Echocardiography , and Certification Board Of Nuclear Cardiology. Dr. Pandit is currently accepting new patients.
Hu Hao practices practicing medicine in Guangzhou, China. Mr. Hao is rated as a Distinguished expert by MediFind in the treatment of Carnitine-Acylcarnitine Translocase Deficiency. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Carnitine-Acylcarnitine Translocase Deficiency, Necrotizing Enterocolitis, Methylmalonic Acidemia, and Ornithine Transcarbamylase Deficiency.
Published Date: November 01, 2015
Published By: National Institutes of Health