What does carnitine palmitoyltransferase II do?
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 does carnitine palmitoyltransferase I do?
Carnitine palmitoyltransferase 1A connects carnitine to long-chain fatty acids so they can enter mitochondria and be used to produce energy. During periods of fasting, long-chain fatty acids are an important energy source for the liver and other tissues.
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 do high carnitine levels mean?
High levels of free carnitine can indicate that your child has carnitine palmitoyl transferase type I (CPT-I) deficiency. A positive result does not mean your baby has CPT-I deficiency, but more testing is needed to know for sure.
How do I get CPT2?
You must have passed a national certification examination from one of the certifying organizations approved by the California Department of Public Health to qualify for CPT II certification.
Is primary carnitine deficiency serious?
The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death.
What can happen in case of carnitine deficiency?
Carnitine deficiency is a condition where the nutrient can’t reach your body’s cells. It can cause muscle weakness. It may also cause heart and liver problems. With the primary condition, not enough carnitine can get into cells because of a genetic problem.
Is CPT2 on the newborn screen?
CPT-II deficiency is screened in almost all US newborn screening (NBS) programs as a secondary target of NBS due to the lack of a proven efficacious treatment (Watson et al. 2006). Although newborns are routinely screened for fatty acid oxidation defects, some cases of LCFA oxidation defects (Schymik et al.
Is CPT2 hereditary?
Carnitine palmitoyl transferase 2 deficiency (CPT2) is a rare inherited disorder that occurs when the last step in the entry of fats into sac-like bodies called mitochondria is blocked.
Is carnitine deficiency genetic?
Disease at a Glance Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).
What are the effects of carnitine deficiency?
Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia).
What you can do despite CPT Type 2?
Individuals with the mild myopathic form of CPT II deficiency should avoid strenuous exercise, long periods without eating, and extreme temperatures. They are recommended to eat a modified diet that consists of frequent, high-carbohydrate, low-fat meals. Some doctors also suggest using carnitine supplements.
How are the types of carnitine palmitoyltransferase II deficiency classified?
The three main types of carnitine palmitoyltransferase II deficiency classified on the basis of tissue-specific symptomatology and age of onset. Among the few people diagnosed with CPT2, some have unknown and/or novel mutations that place them outside these three categories while remaining positive for CPT2.
Is palmitoylcarnitine elevated in CPT II deficiency?
Blood palmitoylcarnitine levels were rarely abnormal, and levels of oleoylcarnitine were only occasionally mildly increased but were not diagnostic for CPT II deficiency. Quantitative urinary organic acid excretion profiles did not show any persistent abnormalities (see table e-1 for more detail). DISCUSSION
What is CPT2 deficiency?
Carnitine palmitoyltransferase II deficiency (CPT-II, CPT2) is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.
What is the function of the histidine residue in carnitine acyltransferase?
The histidine residue (at position 372 in CPT II) is fully conserved in all members of the carnitine acyltransferase family and has been localized to the enzyme active site, likely playing a direct role in the catalytic mechanism of the enzyme. A general mechanism for this reaction is believed to involve this histidine acting as a general base.