Carnitine Palmitoyltransferase 2 Deficiency Overview

Save information for later
Sign Up

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.
Not sure about your diagnosis?
Check Your Symptoms
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?
Advanced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Emmanuel A. Yanelli
Internal Medicine
Advanced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Emmanuel A. Yanelli
Internal Medicine

University Primary Care Practices Inc

158 W Main Rd, Suite A, 
Conneaut, OH 
440-593-0197
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Emmanuel Yanelli is a primary care provider, practicing in Internal Medicine in Conneaut, Ohio. Dr. Yanelli is rated as an Advanced provider by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. His top areas of expertise are Type 2 Diabetes (T2D), Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Hypertension. Dr. Yanelli is currently accepting new patients.

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
See accepted insurances

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 1 Deficiency, Carnitine Palmitoyltransferase 2 Deficiency, Ulcerative Colitis, and Glucocorticoid-Remediable Aldosteronism.

 
 
 
 
Learn about our expert tiers
Learn More
Distinguished in Carnitine Palmitoyltransferase 2 Deficiency
Pushpa R. Joshi-Raj Joshi
Distinguished in Carnitine Palmitoyltransferase 2 Deficiency
Pushpa R. Joshi-Raj Joshi
Ernst Grube Str. 40, 
Halle, NI, DE 

Pushpa Joshi-Raj Joshi practices in Halle, Germany. Joshi-Raj Joshi is rated as a Distinguished expert by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. Their top areas of expertise are Carnitine Palmitoyltransferase 2 Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, Rhabdomyolysis, and Progressive External Ophthalmoplegia.

View All Doctors
What are the latest Carnitine Palmitoyltransferase 2 Deficiency Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials