Introduction
Health Causes When the body is fasting, the main source of energy is fatty acids. It is also a source of energy for the body at rest, during long periods of exercise, and in the myocardium and skeletal muscles. Fatty acids (including long chain, medium chain, short chain) use carnitine to enter the mitochondria and decompose via beta-oxidation. Each step requires a different enzyme action, one decomposition of two carbon atoms and one molecule of acetyl-CoA. Acetyl-CoA enters the citric acid cycle or is converted to a ketone body in the liver. After a long period of fasting, the ketone body produces energy for use in the myocardium, skeletal muscle, and brain. Participate in the metabolism of fatty acids.
Cause
When the body is fasting, the main source of energy is fatty acids, which are also the source of energy for the body at rest, during long periods of exercise, and in the myocardium and skeletal muscles. Fatty acids (including long chain, medium chain, short chain) use carnitine to enter the mitochondria and decompose via beta-oxidation. Each step requires a different enzyme action, one decomposition of two carbon atoms and one molecule of acetyl-CoA. Acetyl-CoA enters the citric acid cycle or is converted to a ketone body in the liver. After a long period of fasting, the ketone body produces energy for use in the myocardium, skeletal muscle, and brain.
participateFatty acid oxidationThere are many metabolic enzymes. When one of the enzymes is abnormal, the whole metabolism will be affected and cause disease. The degree and timing of fatty acid oxidation defects may vary from newborn to adult. Infants often have brain lesions accompanied by low ketone hypoglycemia, as well as heart problems, and adults have muscle problems.
symptom
1. Carnitine Transporter Defect (CTD):
Carnitine is abnormal in the process of cell membrane penetration and transportation, resulting in lack of energy. From birth to 2 years old, the symptoms may be brain lesions, accompanied by vomiting, or even coma, as well as low ketone hypoglycemia and high blood. Ammonia, abnormal liver function, heart failure or skeletal muscle weakness. Patients aged 1-7 years may have progressive ventricular hypertrophy.
2. Carnitine Palmitoyl Transferase Deficiency (CPT1):
Carnitine does not function properly because of enzyme loss (CarnitineCan not bind to fatty acids) and affect long-chain fatty acid metabolism, especially when fasting. Usually occurs in the later stages of infancy, the main feature is low ketone hypoglycemia, causing coma or cramps. Patients usually have enlarged liver, muscle weakness, impaired nervous system, and increased blood carnitine concentration.
3. Carnitine Palmitoyl Transferase 2 Deficiency; CPT2:
It can cause discomfort when the body is infected, has a fever or fasting. Symptoms are muscle weakness, heart hypertrophy, enlarged liver, hypoglycemia, vomiting, and lethargy. If left untreated, it may be coma or fatal. Patients aged 15-30 years are more common. Symptoms appear after a large amount of exercise or fasting, such as: muscle pain, weakness, paralysis, hematuria, etc. Untreated may cause kidney failure, and adult type will not have heart problems or hypoglycemia symptoms.
4. Carnitine Translocase Deficiency:
Carnitine combined with fatty acids can not enter the mitochondria, resulting in abnormal energy, may occur after a few hours of birth, respiratory and rapid heartbeat, low ketone hypoglycemia, hyperammonemia, hepatomegaly, cardiac hypertrophy and muscle weakness, may lead to sudden death.
5. Very long-chain fatty acid dehydrogenase deficiency (Very-Long-Chain Acyl-CoA-Dehydrogenase Deficiency; VLCAD):
Patients may develop in infancy, symptoms include hypoglycemia, lethargy, muscle weakness, etc., liver and heart may also have lesions, children, adolescents or adults with mild symptoms, usually have no heart problems, chronic hunger, sick Or may cause illness after exercise.
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