What causes acylcarnitine?
Carnitine-acylcarnitine translocase deficiency is caused by mutations in the SLC25A20 gene , which provides instructions for making an enzyme called carnitine-acylcarnitine translocase (CACT), which is essential for fatty acid oxidation (a multistep process that breaks down (metabolizes) fats and converts them into …
What does acylcarnitine profile test for?
The acylcarnitine profile is a diagnostic test for inherited disorders of fatty acid and branched-chain amino acid catabolism. Patients with this type of metabolic disorder accumulate disease-specific acylcarnitines that correlate with the acyl coenzyme A compounds in the affected mitochondrial metabolic pathways.
What is CACT disease?
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
What is CACT test?
Certain acids and toxins build up in the body when a child has a fatty acid oxidation condition, so measuring the amounts of these substances in your baby’s body can help doctors determine if your baby has a condition. A high amount of C16 and/or C18:1 acylcarnitines in the blood may be a sign of CACT.
Are Acylcarnitines toxic?
Pathophysiologic findings in this patient suggested that accumulation of long-chain acylcarnitine species may be toxic for several organs, including heart, liver, and skeletal muscle. In addition, the acute development of ventricular dysrhythmias may be related to accumulation of such species in cardiac tissue.
Can carnitine deficiency be cured?
The main treatment for CDSP is L-carnitine supplementation, which is very effective if started before organ damage occurs. Hypoglycemic episodes associated with carnitine deficiency are treated with intravenous dextrose infusion or proper feeding and diet.
What does CACT mean?
CACT
| Acronym | Definition |
|---|---|
| CACT | Citizens Advisory Committee on Transportation (various locations) |
| CACT | Connecticut Association for Community Transportation |
| CACT | Command Aircraft Crew Training |
| CACT | Command Air Crew Training |
Where is carnitine located?
Carnitine forms a high-energy ester bond with long chain fatty acids by the action of carnitine palmitoyl transferase 1 (CPT-1), located in the inner aspect of the outer mitochondrial membrane, with the formation of acylcarnitines [3].
Are Carnitines lipids?
Acylcarnitines are acyl esters of the quaternary ammonium compound carnitine. These esters are essential for the catabolism of fatty acids and maintenance of energy homeostasis in the human body. Acylcarnitines transport acyl groups from fatty acids into the mitochondria to generate energy.