Carnitine Palmitoyltransferase 2 Deficiency
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Carnitine Palmitoyltransferase 2 Deficiency Overview

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Learn About Carnitine Palmitoyltransferase 2 Deficiency

What is the definition of Carnitine Palmitoyltransferase 2 Deficiency?
Carnitine palmitoyltranferase 2 deficiency is a genetic enzyme disorder that prevents the body from using fat for energy. There are three types of carnitine palmitoyltranferase 2 deficiency: 1) a lethal neonatal form, 2) a severe infantile hepatocardiomuscular (liver, heart, and muscle) form, and 3) a myopathic (muscular disease) form.
What are the symptoms of Carnitine Palmitoyltransferase 2 Deficiency?
Symptoms of carnitine palmitoyltranferase 2 deficiency depend on the type. Symptoms of carnitine palmitoyltranferase 2 deficiency include muscle weakness, muscle aches and pains, exercise intolerance, muscle dysfunction, muscle cramps, headache, facial abnormalities, enlarged liver, muscle wasting, seizures, chronic kidney disease, brain and nerve abnormalities, fluid on the brain, irregular heartbeat, heart disease, respiratory distress, low blood sugar, coma, and sudden death.
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What are the current treatments for Carnitine Palmitoyltransferase 2 Deficiency?
Treatment for carnitine palmitoyltranferase 2 deficiency involve a diet with high levels of carbohydrates and low amounts of fat and protein; avoiding fasting over 12 hours; exercise restriction; and the medication, bezafibrate.
Who are the top Carnitine Palmitoyltransferase 2 Deficiency Local Doctors?
Mark S. Skier
Experienced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Mark S. Skier
Internal Medicine
Experienced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Mark S. Skier
Internal Medicine

Aurora Internal Medicine

3119 S Clement Ave, 
Milwaukee, WI 
414-486-1900
Languages Spoken:
English
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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 2 Deficiency. His top areas of expertise are Carnitine Palmitoyltransferase 2 Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, Ulcerative Colitis, and Glucocorticoid-Remediable Aldosteronism.

Jessica R. Priestley
Advanced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Jessica R. Priestley
Pediatrics | Medical Genetics
Advanced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Jessica R. Priestley
Pediatrics | Medical Genetics

Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE

25 Michigan Street Northeast, Suite 2100, 
Grand Rapids, MI 
616-486-9830
Experience:
8+ years
Languages Spoken:
English
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Offers Telehealth

Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider in Grand Rapids, Michigan. Dr. Priestley has been practicing medicine for over 8 years and is rated as an Advanced provider by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. Her top areas of expertise are Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency.

 
 
 
 
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Experienced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Georgianne L. Arnold
Medical Genetics | Pediatrics
Experienced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Georgianne L. Arnold
Medical Genetics | Pediatrics

St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-8413
Languages Spoken:
English
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. Dr. Arnold is rated as an Experienced provider by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

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