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What is Carnitine palmitoyl transferase 2 deficiency?

What is Carnitine palmitoyl transferase 2 deficiency?

  • Carnitine palmitoyl transferase 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which 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.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Carnitine palmitoyl transferase 2 deficiency as a "rare disease".
Source - Orphanet

Carnitine palmitoyl transferase 2 deficiency: Introduction

Types of Carnitine palmitoyl transferase 2 deficiency:

Broader types of Carnitine palmitoyl transferase 2 deficiency:

How serious is Carnitine palmitoyl transferase 2 deficiency?

Prognosis of Carnitine palmitoyl transferase 2 deficiency: death usually in first year of life - type II lethal neonatal form
Complications of Carnitine palmitoyl transferase 2 deficiency: see complications of Carnitine palmitoyl transferase 2 deficiency

What causes Carnitine palmitoyl transferase 2 deficiency?

Causes of Carnitine palmitoyl transferase 2 deficiency: see causes of Carnitine palmitoyl transferase 2 deficiency

What are the symptoms of Carnitine palmitoyl transferase 2 deficiency?

Symptoms of Carnitine palmitoyl transferase 2 deficiency: see symptoms of Carnitine palmitoyl transferase 2 deficiency

Complications of Carnitine palmitoyl transferase 2 deficiency: see complications of Carnitine palmitoyl transferase 2 deficiency

Can anyone else get Carnitine palmitoyl transferase 2 deficiency?

More information: see contagiousness of Carnitine palmitoyl transferase 2 deficiency
Inheritance: see inheritance of Carnitine palmitoyl transferase 2 deficiency

Carnitine palmitoyl transferase 2 deficiency: Testing

Misdiagnosis: see misdiagnosis and Carnitine palmitoyl transferase 2 deficiency.

How is it treated?

Doctors and Medical Specialists for Carnitine palmitoyl transferase 2 deficiency: Medical Geneticist ; see also doctors and medical specialists for Carnitine palmitoyl transferase 2 deficiency.
Treatments for Carnitine palmitoyl transferase 2 deficiency: see treatments for Carnitine palmitoyl transferase 2 deficiency
Research for Carnitine palmitoyl transferase 2 deficiency: see research for Carnitine palmitoyl transferase 2 deficiency

Name and Aliases of Carnitine palmitoyl transferase 2 deficiency

Main name of condition: Carnitine palmitoyl transferase 2 deficiency

Other names or spellings for Carnitine palmitoyl transferase 2 deficiency:

 

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