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Carnitine Palmitoyl Transferase II Deficiency

Carnitine Palmitoyl Transferase II Deficiency: Introduction

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. More detailed information about the symptoms, causes, and treatments of Carnitine Palmitoyl Transferase II Deficiency is available below.

Symptoms of Carnitine Palmitoyl Transferase II Deficiency

  • Aching muscles - type II lethal neonatal form - type II lethal neonatal form
  • Fatigue - type II lethal neonatal form - type II lethal neonatal form
  • Breakdown of muscle tissue - type II lethal neonatal form - 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 II Deficiency?

Carnitine Palmitoyl Transferase II Deficiency: Deaths

Read more about Deaths and Carnitine Palmitoyl Transferase II Deficiency.

Causes of Carnitine Palmitoyl Transferase II Deficiency

Read more about causes of Carnitine Palmitoyl Transferase II Deficiency.

Disease Topics Related To Carnitine Palmitoyl Transferase II Deficiency

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Misdiagnosis and Carnitine Palmitoyl Transferase II Deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis)....read more »

Carnitine Palmitoyl Transferase II Deficiency: Research Doctors & Specialists

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Evidence Based Medicine Research for Carnitine Palmitoyl Transferase II Deficiency

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Carnitine Palmitoyl Transferase II Deficiency: Broader Related Topics

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More information about Carnitine Palmitoyl Transferase II Deficiency

  1. Carnitine Palmitoyl Transferase II Deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Deaths
 

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