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?
Advanced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Emmanuel A. Yanelli
Internal Medicine
Advanced in Carnitine Palmitoyltransferase 2 Deficiency
Dr. Emmanuel A. Yanelli
Internal Medicine
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UH Ravenna Primary Care

6847 N Chestnut St Ste 200, 
Ravenna, OH 
216-286-8165
Languages Spoken:
English
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Accepting New Patients
Offers Telehealth

Emmanuel Yanelli is a primary care provider, practicing in Internal Medicine in Ravenna, Ohio. Dr. Yanelli is rated as an Advanced provider by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Type 2 Diabetes (T2D), Hypertension, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension. Dr. Yanelli is currently accepting new patients.

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
Accepting New Patients

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 clinical expertise encompasses Carnitine Palmitoyltransferase 2 Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, Ulcerative Colitis, and Familial Hypertension. Dr. Skier is board certified in American Board Of Internal Medicine. Dr. Skier is currently accepting new patients.

 
 
 
 
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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
Referral may be required

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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Georgianne Arnold is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Arnold is rated as an Experienced provider by MediFind in the treatment of Carnitine Palmitoyltransferase 2 Deficiency. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Inborn Amino Acid Metabolism Disorder. Dr. Arnold is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

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