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What is Carnitine Palmitoyl Transferase II Deficiency?

What is Carnitine Palmitoyl Transferase II Deficiency?

  • Carnitine Palmitoyl Transferase II Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.

Carnitine Palmitoyl Transferase II Deficiency: Introduction

Types of Carnitine Palmitoyl Transferase II Deficiency:

Broader types of Carnitine Palmitoyl Transferase II Deficiency:

What causes Carnitine Palmitoyl Transferase II Deficiency?

Causes of Carnitine Palmitoyl Transferase II Deficiency: see causes of Carnitine Palmitoyl Transferase II Deficiency

What are the symptoms of Carnitine Palmitoyl Transferase II Deficiency?

Symptoms of Carnitine Palmitoyl Transferase II Deficiency: see symptoms of Carnitine Palmitoyl Transferase II Deficiency

Can anyone else get Carnitine Palmitoyl Transferase II Deficiency?

More information: see contagiousness of Carnitine Palmitoyl Transferase II Deficiency
Inheritance: see inheritance of Carnitine Palmitoyl Transferase II Deficiency

Carnitine Palmitoyl Transferase II Deficiency: Testing

Misdiagnosis: see misdiagnosis and Carnitine Palmitoyl Transferase II Deficiency.

How is it treated?

Doctors and Medical Specialists for Carnitine Palmitoyl Transferase II Deficiency: Medical Geneticist ; see also doctors and medical specialists for Carnitine Palmitoyl Transferase II Deficiency.
Treatments for Carnitine Palmitoyl Transferase II Deficiency: see treatments for Carnitine Palmitoyl Transferase II Deficiency
Research for Carnitine Palmitoyl Transferase II Deficiency: see research for Carnitine Palmitoyl Transferase II Deficiency

Name of Carnitine Palmitoyl Transferase II Deficiency

Main name of condition: Carnitine Palmitoyl Transferase II Deficiency

Carnitine Palmitoyl Transferase II Deficiency: Related Conditions

Research the causes of these diseases that are similar to, or related to, Carnitine Palmitoyl Transferase II Deficiency:

 

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