What would be an expected outcome of a deficiency of carnitine acyltransferase II?
What would be an expected outcome of a deficiency of carnitine acyltransferase II?
Three carnitine palmitoyltransferase II (CPT II) deficiency phenotypes are recognized: a lethal neonatal form; a severe infantile hepatocardiomuscular form; and a myopathic form, in which onset ranges from infancy to adulthood.
What is the role of carnitine palmitoyltransferase 2?
The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy.
What are the symptoms of carnitine palmitoyltransferase deficiency?
CPT deficiency can cause: Symptoms of low blood sugar (hypoglycemia) Liver problems, such as an enlarged liver. Nervous system damage, from liver problems….Symptoms may include:
- Symptoms of low blood sugar (hypoglycemia)
- Temporary muscle pain.
- Muscle breakdown.
- Muscle weakness.
What causes CPT2 disease?
This condition is caused by a genetic defect in the carnitine palmityl transferase 2 enzyme (CPT2), which normally escorts breakdown products of fats from the main part of the muscle cell into the mitochondria (the cell’s “engine”), where they can be further metabolized for energy.
What causes deficiency of carnitine?
What causes carnitine deficiency? Carnitine deficiency may occur in response to a genetic mutation (gene defect) in the protein responsible for bringing carnitine into the cell (primary carnitine deficiency), or it may occur secondary to other metabolic diseases (secondary carnitine deficiency).
Is carnitine deficiency curable?
CDSP is treatable by the daily use of L-carnitine supplements. Without early detection and treatment, an affected child may experience low blood sugar (hypoglycdemia), seizures, heart muscle weakness (cardiomyopathy) that can be life-threatening. Newborn screening is available for CDSP.
Where is carnitine acyltransferase I located?
inner mitochondrial membrane
Two carnitine acyltransferases are involved in acyl-CoA transport: carnitine palmitoyltransferase I (CPTI), located on the outer surface of the inner mitochondrial membrane; and carnitine palmitoyltransferase II (CPTII), located on the inner surface.
Why does CPT 1 deficiency affect liver?
During periods of fasting, long-chain fatty acids are an important energy source for the liver and other tissues. Mutations in the CPT1A gene severely reduce or eliminate the activity of carnitine palmitoyltransferase 1A. Without enough of this enzyme, carnitine is not attached to long-chain fatty acids.
How is CPT2 deficiency diagnosed?
To differentiate the two, the specific diagnosis must be confirmed by genetic testing for CPT2 mutations or by measurement of CPT2 activity in blood or skin cells. For mild CPT2 deficiency, there is a common CPT2 mutation that can be used as a mutation analysis starting point.
What can I eat with CPT2?
Diet Sometimes a low fat, high carbohydrate diet is recommended. Carbohydrates give the body many types of sugar that can be used as energy. In fact, for people needing this treatment, most food in the diet should be carbohydrates (bread, pasta, fruit, vegetables, etc.) and protein (lean meat and low-fat dairy foods).
What is CPT I (Carnitine palmitoyltransferase) deficiency?
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.
What is carnitine-acylcarnitine translocase deficiency (CACT)?
People with this disorder have a faulty transporter (CACT) that disrupts carnitine’s role in processing long-chain fatty acids. [1] There are two forms of carnitine-acylcarnitine translocase deficiency.
What is primary carnitine deficiency and how is it treated?
Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).
How does carnitine palmitoyltransferase 2 work?
A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are inside mitochondria, carnitine palmitoyltransferase 2 removes the carnitine and prepares them for fatty acid oxidation.
