What are Acylcarnitines?
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 the general role of Acylcarnitines in fatty acid metabolism?
Acylcarnitines play an essential role in regulating the balance of intracellular sugar and lipid metabolism. They serve as carriers to transport activated long-chain fatty acids into mitochondria for β-oxidation as a major source of energy for cell activities.
Are Acylcarnitines 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.
What is Acylcarnitine analysis?
Acylcarnitine analysis is a useful test for identifying patients with inborn errors of mitochondrial fatty acid β-oxidation and certain organic acidemias. Plasma is routinely used in the diagnostic workup of symptomatic patients.
Are Acylcarnitines toxic?
Of note, it is well documented that both acylcarnitines and acyl-CoAs are potentially toxic for the cells as they may be inhibiting other important pathways in the cells (18,19).
What does high Acylcarnitine mean?
It is considered a fatty acid oxidation condition because people affected by CACT are unable to break down some of the fats they eat into energy the body needs to function. This can cause too many unused fatty acids build up in the body.
What is the purpose of carnitine?
Carnitine plays a critical role in energy production. It transports long-chain fatty acids into the mitochondria so they can be oxidized (“burned”) to produce energy. It also transports the toxic compounds generated out of this cellular organelle to prevent their accumulation.
What does carnitine do in the body?
Is MCAD genetic?
MCAD deficiency is inherited from both parents. Though both parents are carriers — each one has an abnormal gene — they typically don’t have symptoms of the condition. The affected child inherits two copies of the abnormal gene — one from each parent.
How is acylcarnitine formed?
Acylcarnitines arise from the conjugations of acyl-coenzyme A (CoAs) with carnitine for the transport of long-chain fatty acids across the innermitochondrial membrane for β-oxidation. Additionally, carnitine binds acyl residues and aids in their excretion.
What is the C3 level of acylcarnitine in plasma?
Acylcarnitine profile in plasma, repeated using tandem mass spectrometry (MS/MS), 2 confirmed the high C3 result (10.6 μmol/L; reference interval, <0.87 μmol/L). The child was asymptomatic and was growing and developing normally with no concerns.
What are the characteristics of acylcarnitines?
Acylcarnitines characteristic of fatty acid oxidation disorders. Notes: Acylcarnitines are named according to the number of carbons, the number of double bonds, and the presence or absence of a hydroxyl group as part of the acyl group. For example, octadeca-di-enoylcarnitine (18 carbons and two double bonds) is noted as C18:2.
Where does C4 acylcarnitine come from?
C4 acylcarnitine, which could be derived from butyrylcarnitine (biomarker for short-chain acyl-CoA dehydrogenase deficiency), isobutyrylcarnitine (isobutyryl-CoA dehydrogenase deficiency), and formiminoglutamic acid (glutamate formiminotransferase deficiency) 2.
What is the pathophysiology of acylcarnitine toxicity?
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.