What is CPT1 deficiency?
Carnitine palmitoyltransferase (CPT) deficiency is a very rare condition that causes muscle weakness and other symptoms. It happens because of a problem with one of two enzymes, CPT1 or CPT2. Enzymes are substances in the body that help cause chemical reactions.
What is the role of CPT1?
Carnitine palmitoyl transferase I (CPT1) catalyzes the transport of long-chain fatty acids into mitochondria for beta-oxidation. A link between CPT1 and apoptosis has been suggested on the basis of several experimental data.
What are the symptoms of CPT2?
Signs and Symptoms of CPT2 Deficiency
- High blood ammonia.
- Enlarged liver (hepatomegaly), especially when sick.
- Severe skeletal muscle weakness or pain.
- Muscle breakdown such as myoglobinuria.
- Heart enlargement.
- A specific life-threatening low blood sugar (hypoketotic hypoglycemia)
What is the diet for CPT2 disease?
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.
What is the difference between CPT1 and CPT2?
The CPT system is made up of two separate proteins located in the outer- (CPT1) and inner- (CPT2) mitochondrial membranes. While CPT2 is a ubiquitous protein, two tissue-specific CPT1 isoforms-the so-called “liver” (L) and “muscle” (M) CPT1s-have been shown to exist.
Why does CPT 1 deficiency cause hypoglycemia?
Without enough of this enzyme, carnitine is not attached to long-chain fatty acids. As a result, these fatty acids cannot enter mitochondria and be converted into energy. Reduced energy production can lead to some of the features of CPT I deficiency, such as hypoketotic hypoglycemia.
How is CPT1 regulation?
CPT1 is a complex enzyme whose activity is regulated by malonyl-CoA through allosteric inhibition 9. C75 is a compound designed to mimic cerulenin, an inhibitor of fatty acid synthase (FAS).
How do you treat CPT2 disease?
Treatment is based on avoidance of prolonged fasting (>12 hr) and a low-fat and high-carbohydrate diet combined with exercise restriction in order to avoid muscle pain and rhabdomyolysis.
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.
Where is CPT1 located?
CPT I is located in the inner aspect of the outer mitochondrial membrane, whereas CPT II is bound to the inner mitochondrial membrane. CPT I deficiency presents in infancy as attacks of fasting-induced life-threatening hypoketotic hypoglycemia.
What is a CPT1 certification?
This program provides education for individuals seeking a career in the laboratory as a California Certified Phlebotomy Technician I (CPT I). The 320-hour basic certified CPT I Program provides 80 hours theory didactic, 80 hours in-class practicum, and 160 hours in a clinical rotation.
Why does CPT 1 deficiency affect liver?
During periods of fasting, long-chain fatty acids are an important energy source for the liver and other tissues. Mutations in the CPT1A gene severely reduce or eliminate the activity of carnitine palmitoyltransferase 1A. Without enough of this enzyme, carnitine is not attached to long-chain fatty acids.
What are the GeneCards for the CPT1B gene?
GeneCards Summary for CPT1B Gene CPT1B (Carnitine Palmitoyltransferase 1B) is a Protein Coding gene. Diseases associated with CPT1B include Carnitine Palmitoyltransferase I Deficiency and Visceral Steatosis. Among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and Signaling by GPCR.
What kind of diseases are associated with CPT1C?
CPT1C (Carnitine Palmitoyltransferase 1C) is a Protein Coding gene. Diseases associated with CPT1C include Spastic Paraplegia 73, Autosomal Dominant and Monieziasis . Among its related pathways are Adipocytokine signaling pathway and AMP-activated Protein Kinase (AMPK) Signaling .
Is there a read through transcript for CPT1B?
Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009] CPT1B (Carnitine Palmitoyltransferase 1B) is a Protein Coding gene.
How is CPT I related to carnitine transport?
CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.