Full Information about Carnitine Palmitoyltransferase (CPT) Deficiency – Symptoms, Causes, Treatment & Prevention

Carnitine palmitoyltransferase (CPT) deficiency is a rare situation that creates muscle weakness and other symptoms. CPT deficiency occurs because of a problem with 1 of 2 enzymes, CPT1 or CPT2. Enzymes are materials in the body that help to make chemical reactions.
CPT enzymes help consume fatty acids into cells to use for energy. They are individually significant for specific cells, like muscle cells. With CPT deficiency, cells that depend on fatty acids for energy may begin to work poorly. This generates symptoms like muscle weakness and heart or liver problems. CPT deficiency can occur in men, women, and children of all ages.

Types of CPT deficiency

There are two types of CPT deficiency

1) CPT 1 deficiency: This type makes complications with the CPT1 enzyme. The CPT1 enzyme helps consume fatty acids inside the cells.
2) CPT 2 deficiency: This type creates problems with the CPT2 enzyme. The CPT2 enzyme helps confirm your body can take fatty acids once they are inside the cells.
There are 3 subtypes of CPT2 deficiency:

1) The myopathic form is the most popular
2) Serious infantile hepatocardiomuscular form
3) Lethal neonatal form

Infants with the deadly juvenile form of CPT2 generally die within the first few months of life. Infants with severe infantile form sometimes do somewhat better. But they also suffer from severe multisystemic disease. The myopathic way is little

CPT Deficiency Symptoms

Children with CPT deficiency tend to show symptoms of CPT deficiency within the first few years of life. But in some cases, symptoms of CPT deficiency may start as an adult.

CPT deficiency symptoms include:

1) Low blood sugar
2) Liver problems, like an enlarged liver
3) Nervous system damage, from liver problems
4) Coma and sudden death

Symptoms of CPT deficiency can occur a bit differently in individuals. Symptoms may be nominal to severe. Between episodes, people with CPT1 or CPT2 deficiency may not have any symptoms.

The myopathic form of CPT2 deficiency makes little symptoms. It does not create heart or liver problems. Symptoms may start at any time up to age 60. Symptoms can arise with skipping meals, a lot of exercise, or illness. CPT deficiency symptoms may include:

1) Low blood sugar
2) Temporary muscle pain
3) Muscle breakdown
4) Muscle weakness

In the lethal neonatal form, symptoms generally start within a few days after birth. In the infantile severe hepatocardiomuscular way, CPT deficiency symptoms begin in the first year of life. These forms can also make:

1) A weakened heart
2) Abnormal heart rhythms
3) Facial abnormalities
4) Respiratory problems
5) Anomalies of the brain and kidneys
6) Muscle weakness

CPT deficiency Caused by

CPT deficiency is created by an abnormal gene. A problem with the gene might make the CPT1 or CPT2 enzymes to be missing or not work usually.

Diagnosis of CPT deficiency

The situation may be diagnosed by a neurologist or geneticist. An infant may be a diagnosis of CPT deficiency through standard newborn screening tests.
The process of diagnosing CPT deficiency begins with a medical history and a physical test. The healthcare provider will ask about your symptoms and past medical situations. He or she may also ask about your family’s medical history. The physical teat may include a neurological test. Tests may also be done, like:

1) Blood test
2) Urine test
3) Exercise test
4) Genetic analysis
5) Heart test

CPT deficiency Treatment

A change in diet is the primary treatment of CPT deficiency. This diet must neglect depending on fats for energy. It should offer a high amount of carbohydrates. It should contain a low amount of fats and protein. It is also significant to eat sometimes. This can prevent low blood sugar. It can also prevent the body from using fats for energy. And you should keep away from things that may promote symptoms. These may contain skipping meals, exposure to cold, stress, and a lot of exercises. These are all CPT deficiency treatment.

Prevention of CPT deficiency   

If the situation runs in your family, you may want to look for a genetic specialist before you have a baby. Genetic testing can be done to identify your risk of passing the disease to your child. It is the prevention of CPT deficiency. If you have the abnormal gene for the situation, you have options. If you apply in vitro fertilization, the embryos can be examined for the disease.

Updated: December 5, 2019 — 4:40 pm

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