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...»
See full list of 22
symptoms of Carnitine palmitoyl transferase 2 deficiency
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 multiple sclerosis (see symptoms of multiple...read more »
Read more about Misdiagnosis and Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency: Research Doctors & Specialists
Research related physicians and medical specialists:
- Muscle and Orthopedic Specialists:
- Arthritis & Joint Health Specialists (Rheumatology):
- more specialists...»
Other doctor, physician and specialist research services:
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
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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
More about prognosis of Carnitine palmitoyl transferase 2 deficiency
Research about Carnitine palmitoyl transferase 2 deficiency
Visit our research pages for current research about Carnitine palmitoyl transferase 2 deficiency treatments.
Statistics for Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency: Broader Related Topics
Types of Carnitine palmitoyl transferase 2 deficiency
User Interactive Forums
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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
Contents for Carnitine palmitoyl transferase 2 deficiency:
