Abstract
A new form of CPT2 deficiency in a 15-year-old patient
Highlights
Lipid metabolism falls into the category of intermediate metabolism which is responsible for producing the necessary energy of the body’s performance
These acids are taken over by the transport system of long-chain fatty acids through the mitochondrial membrane made by three enzymes (CPT1, CPT2, CACT)
The clinical picture of these diseases is identical to that of beta-oxidation disorders, differentiation only on clinical criteria being practically impossible. Both in beta-oxidation disorders and in those of related routes, long-chain fatty acids are accumulated which are toxic to the skeletal muscle and to the myocardium. These acids are no longer degraded in the process of intramitochondrial beta-oxidation or because they can no longer cross the mitochondrial membrane as happens in related horse disorders or penetrate into the mitochondria but the enzymes involved in their degradation no longer work, as happens in beta-oxidation disorders
Summary
Lipid metabolism falls into the category of intermediate metabolism which is responsible for producing the necessary energy of the body’s performance. The first part comprises the system of decomposition of ingested fats up to the level of long chain fatty acids, provided by digestive enzymes. The last part is represented by mitochondrial betaoxidation which is served by six enzymes (VLCAD, LCHAD, trifunctional enzyme, MCAD, SCAD, SCHAD). They are intended to remove from the fat acid chain a molecule of acetylsalicylic-CoA (1)
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