Carnitine Palmitoyltransferase 1 DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Carnitine Palmitoyltransferase 1 Deficiency
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy.
Variants (also caused mutations) in the CPT1A gene cause CPT I deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver.
CPT I deficiency is a rare disorder, though its prevalence varies worldwide. It is estimated to occur in 1 in 750,000 to 2,000,000 infants in the United States. CPT I deficiency is more common in certain populations, including some Native Alaskan populations and some Native Pacific Island populations. In certain regions of China, CPT I deficiency is estimated to have an incidence of 1 in 102,388 infants.
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. However, women who have one CPT1A gene variant and who are pregnant with a fetus who has two CPT1A gene variants are at risk of developing a condition called acute fatty liver of pregnancy (AFLP). AFLP begins with abdominal pain and can rapidly progress to liver failure.
Office
George Dmytrenko is a Neurologist practicing medicine in Pensacola, Florida. Dr. Dmytrenko is rated as a Distinguished provider by MediFind in the treatment of Carnitine Palmitoyltransferase 1 Deficiency. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Memory Loss, Carnitine Palmitoyltransferase 1 Deficiency, Epilepsy, and Headache.
Aurora Internal Medicine
Mark Skier is a primary care provider, practicing in Internal Medicine in Milwaukee, Wisconsin. Dr. Skier is rated as an Experienced provider by MediFind in the treatment of Carnitine Palmitoyltransferase 1 Deficiency. His clinical expertise encompasses Carnitine Palmitoyltransferase 2 Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, Ulcerative Colitis, and Glucocorticoid-Remediable Aldosteronism. Dr. Skier is board certified in American Board Of Internal Medicine.
Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE
Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of Carnitine Palmitoyltransferase 1 Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.
Published Date: March 17, 2025
Published By: National Institutes of Health