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.
Save information for later
Sign Up
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?
PJ
Pushpa R. Joshi-Raj Joshi
Elite
Highly rated in
2
conditions

Martin Luther University Halle Wittenberg

Ernst Grube Str. 40, 
Halle, NI, DE 

Pushpa Joshi-Raj Joshi practices in Halle, Germany. Joshi-Raj Joshi is rated as an Elite expert by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Carnitine Palmitoyltransferase 2 Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, Rhabdomyolysis, and Myoglobinuria Recurrent.

SZ
Stephan Zierz
Distinguished
Highly rated in
10
conditions

Martin Luther University Halle Wittenberg

Ernst Grube Str. 40, 
Halle, NI, DE 

Stephan Zierz practices in Halle, Germany. Zierz is rated as a Distinguished expert by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Carnitine Palmitoyltransferase 2 Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, Myoglobinuria Recurrent, and Distal Myopathy 2.

 
 
 
 
Learn about our expert tiers
Learn more
CA
Corrado I. Angelini
Distinguished
Highly rated in
37
conditions

University Of Padova

Neuromuscular Laboratory, 
Padova, IT 

Corrado Angelini practices in Padova, Italy. Angelini is rated as a Distinguished expert by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. He is also highly rated in 37 other conditions, according to our data. His top areas of expertise are Limb-Girdle Muscular Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, Pompe Disease, and Heart Transplant.

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
What are the Latest Advances for Carnitine Palmitoyltransferase 2 Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.