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Carnitine palmitoyl transferase 2 deficiency

Carnitine palmitoyl transferase 2 deficiency: Introduction

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. More detailed information about the symptoms, causes, and treatments of Carnitine palmitoyl transferase 2 deficiency is available below.

Symptoms of Carnitine palmitoyl transferase 2 deficiency

  • Aching muscles - type II lethal neonatal form
  • Fatigue - type II lethal neonatal form
  • Breakdown of muscle tissue - type II lethal neonatal form
  • Myoglobins in the urine after cold exposure - type II lethal neonatal form
  • Myoglobins in the urine after fever - type II lethal neonatal form
  • more symptoms...»

Wrongly Diagnosed with Carnitine palmitoyl transferase 2 deficiency?

Carnitine palmitoyl transferase 2 deficiency: Deaths

Read more about Deaths and Carnitine palmitoyl transferase 2 deficiency.

Carnitine palmitoyl transferase 2 deficiency: Complications

Review possible medical complications related to Carnitine palmitoyl transferase 2 deficiency:

Causes of Carnitine palmitoyl transferase 2 deficiency

Read more about causes of Carnitine palmitoyl transferase 2 deficiency.

Misdiagnosis and Carnitine palmitoyl transferase 2 deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as...read more »

Carnitine palmitoyl transferase 2 deficiency: Research Doctors & Specialists

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Evidence Based Medicine Research for Carnitine palmitoyl transferase 2 deficiency

Medical research articles related to Carnitine palmitoyl transferase 2 deficiency include:

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Carnitine palmitoyl transferase 2 deficiency: Animations

Prognosis for Carnitine palmitoyl transferase 2 deficiency

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

Research about Carnitine palmitoyl transferase 2 deficiency

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Statistics for Carnitine palmitoyl transferase 2 deficiency

Carnitine palmitoyl transferase 2 deficiency: Broader Related Topics

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Definitions of Carnitine palmitoyl transferase 2 deficiency:

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

Related Carnitine palmitoyl transferase 2 deficiency Info

More information about Carnitine palmitoyl transferase 2 deficiency

  1. Carnitine palmitoyl transferase 2 deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Deaths
  7. Complications
  8. Prognosis
 

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