How is CPT2 deficiency treated?

How is CPT2 deficiency treated?

A change in diet is the main treatment for CPT deficiency. This diet must avoid relying on fats for energy. It should provide a high amount of carbohydrates. It should contain a low amount of fats and protein.

What is the role of carnitine palmitoyltransferase II?

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.

How do you test for CPT2 deficiency?

The signs for CPT-II are similar to the signs for another fatty acid oxidation condition known as CACT, so your baby’s doctor may need to test a small skin sample to determine if your baby has either condition.

What is carnitine uptake deficiency?

Carnitine uptake defect (CUD) is an inherited condition in which the body cannot bring enough carnitine, a substance that helps the body make energy from fats, into the cells. CUD is considered a fatty acid oxidation condition because people affected by CUD are unable to break down certain fats.

Where is CPT2 located?

CPT-II is located in the inner mitochondrial membrane and has the role of transporting long-chain fatty acids from the cytosolic compartment to the mitochondrial matrix so that they can undergo β-oxidation. A wide spectrum of phenotypes is noted in CPT-II deficiency, depending on the severity of the mutation.

What happens in CPT2 deficiency?

The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia.

How does the carnitine shuttle work?

The carnitine shuttle represents a mechanism by which long-chain fatty acids, which are impermeable to the mitochondrial membranes, are transported into the mitochondrial matrix for the purpose β-oxidation and energy production.

What is CPT blood test?

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.

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.

What is the purpose of fatty acid oxidation?

Fatty acids represent an important source of energy in periods of catabolic stress (fasting or illness) [63], their oxidation produces acetyl-CoA, which supplies energy to other tissues when glycogen stores are depleted.

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.

Why do we need carnitine shuttle?

The carnitine shuttle is responsible for transferring long-chain fatty acids across the barrier of the inner mitochondrial membrane to gain access to the enzymes of beta-oxidation.