CPT Deficiency, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

This book describes CPT Deficiency, Diagnosis and Treatment and Related Diseases

I was watching this show DIAGNOSIS on Netflix which featured a girl named Angel with symptoms included muscle pain, aches and fatigue that developed after exercise.
On numerous hospital visits, she had elevated creatine kinase levels in her blood, which is a sign of muscle breakdown.
She also had dark-colored urine, a finding that indicates either higher red blood cell breakdown (due to pigmentation from a red blood cell oxygen-binding protein called hemoglobin) or higher muscle breakdown (due to a protein related to hemoglobin found only in muscles called myoglobin).
When the body starts to run out of sugar during exercise, it turns to fats for its energy source.
CPT2 is one of the molecules affected in the pathway of transporting fatty acids into energy-producing structures inside the cells called mitochondria.
If CPT2 is not functional, it can cause muscle breakdown as the muscles run out of their energy source.
CPT2 is rare and the diagnosis is finally made by a health team in Turin, Italy using genetic testing

Carnitine palmitoyltransferase (CPT) deficiency is a very rare disorder that produces muscle weakness and other symptoms.
It happens due to a genetic disease with 1 of 2 enzymes, CPT1 or CPT2 deficient.
Enzymes are substances in the body that help produce chemical reactions.
CPT enzymes help to force fatty acids into cells to usage for energy.
They are particularly important for certain cells, such as muscle cells.
With CPT deficiency, cells that depend on fatty acids for energy may start to work poorly.
This causes the symptoms such as muscle weakness and heart or liver disorders.
CPT deficiency can occur in men, women, and children of all ages.

The disease is caused by an abnormal gene.
CPT 1 deficiency
This type causes problems with the CPT1 enzyme.
The CPT1 enzyme helps force fatty acids inside the cells.
CPT 2 deficiency
This type causes disorders with the CPT2 enzyme.
The CPT2 enzyme helps ensure the body can utilize fatty acids once they are inside the cells.
There are 3 subtypes of CPT2 deficiency:

1. Myopathic form (most frequent)
2. Severe infantile hepatocardiomuscular form
3. Lethal neonatal form
   Infants with the lethal infantile form of CPT2 normally die within the first few months of life.
   Infants with the severe infantile form often perform somewhat better.
   But they also go through severe multi-systemic disease.
   The myopathic form causes mild symptoms.

CPT deficiency is produced by an abnormality (mutation) in the CPT gene that causes the formation of an abnormal functioning carnitine palmitoyltransferase enzyme and reduced metabolism of long-chain fatty acids.
CPT deficiency is passed on as an autosomal recessive genetic disorder with a 25% recurrence risk for future children to be affected.
It is caused by a mistake in the code for the CPT gene (mutation) resulting in reduced carnitine palmitoyltransferase enzyme activity stopping normal metabolism of long-chain fatty acids from food and stored fat and reduced energy production.
CPT deficiency can cause:

1. Symptoms of low blood sugar (hypoglycemia)
2. Liver problems, such as an enlarged liver
3. Nervous system damage, from liver problems
4. Coma and sudden death
   Symptoms can include muscle pain and weakness.
   Genetic Testing can provide the diagnosis
   The patient may consult a genetic specialist before the patient have a baby.
   A low-fat high carbohydrate diet is the main treatment for CPT deficiency.
   Medical treatment is with oral carnitine in primary carnitine deficiency
   The patient may need to avoid activities that can trigger symptoms, like skipping meals or exercising a lot.

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