Carnitine palmitoyltransferase II deficiency
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| Carnitine palmitoyltransferase II deficiency Classification and external resources | |
 | |
|---|---|
| Carnitine | |
| ICD-9 | 277.85 |
| OMIM | 255110 |
| DiseasesDB | 32534 |
| eMedicine | ped/321 |
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch. Carnitine palmitoyltransferase II deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme that prevents these fats from being processed in the mitochondria.
Types
There are three main types of carnitine palmitoyltransferase II deficiency:
Neonatal form
Infants with the lethal neonatal form of this disorder usually experience respiratory failure, liver failure, seizures, and an irregular heart beat leading to cardiac arrest. In many cases, patients have malformed features and an abnormally developed brain and kidneys.
Hepatocardiomuscular type
Signs and symptoms of the infantile hepatocardiomuscular type usually appear between 6 and 24 months of age. This condition involves recurring attacks of abnormally low levels of fat breakdown products and blood sugar (hypoketotic hypoglycemia) causing a loss of consciousness and seizures. Liver failure and an enlarged liver (hepatomegaly) are also sometimes seen. In many cases, there is also heart involvement. Episodes are often triggered by infections, fever, or fasting.
Myopathic form
The myopathic form is the most frequently seen and least severe form of carnitine palmitoyltransferase II deficiency. It has a variable age of onset and is characterized by muscle pain (myalgia) and weakness. This condition is sometimes associated with the abnormal breakdown of an oxygen-binding muscle protein called myoglobin (myoglobinuria). Myoglobinuria can cause kidney failure and death.
Causes
Mutations in the CPT2 gene cause carnitine palmitoyltransferase II deficiency, leading to the production of a defective version of an enzyme called carnitine palmitoyltransferase II.
Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be broken down and processed.
Excessive levels of long-chain fatty acids may build up in tissues, damaging the heart, liver, and muscles and causing more serious complications.
This condition is inherited in an autosomal recessive pattern.
See also
This article incorporates public domain text from The U.S. National Library of Medicine
fr:Déficit en carnitine palmitoyltransférase II
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
