Diseases » Carnitine Palmitoyl Transferase II Deficiency » Introduction

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...»

See full list of 22 symptoms of Carnitine Palmitoyl Transferase II Deficiency

Wrongly Diagnosed with Carnitine Palmitoyl Transferase II Deficiency?

• Misdiagnosis of 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

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

• Metabolic disorder
• Hereditary myogobinuria
• Recurrent myalgia
• Hepatomegaly
• Cardiac arrthymia
• Seizures
• Liver failure
• more related diseases...»

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 »

Read more about Misdiagnosis and Carnitine Palmitoyl Transferase II Deficiency

Carnitine Palmitoyl Transferase II Deficiency: Research Doctors & Specialists

Research related physicians and medical specialists:

• Muscle and Orthopedic Specialists:
  • Neuromusculoskeletal Medicine
  • Orthopedic Surgery
• Arthritis & Joint Health Specialists (Rheumatology):
  • Rheumatology (Joint Health)
  • Pediatric Rheumatology (Child Joint Health)
• more specialists...»

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Evidence Based Medicine Research for Carnitine Palmitoyl Transferase II Deficiency

Medical research articles related to Carnitine Palmitoyl Transferase II Deficiency include:

• The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model
• more research...»

Click here to find more evidence-based articles on the TRIP Database

Carnitine Palmitoyl Transferase II Deficiency: Animations

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Research about Carnitine Palmitoyl Transferase II Deficiency

Visit our research pages for current research about Carnitine Palmitoyl Transferase II Deficiency treatments.

Carnitine Palmitoyl Transferase II Deficiency: Broader Related Topics

• Neuromuscular conditions
• Muscle conditions
• Musculoskeletal conditions
• Genetic conditions
• Metabolic conditions
• more types...»

Types of Carnitine Palmitoyl Transferase II Deficiency

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