Acyl-CoA from cytosol to the mitochondrial matrix Mutations in the SLC25A20 gene lead to the production of a defective version of an enzyme called carnitine-acylcarnitine<unk> . Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be broken down and processed. As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as weakness, hypoglycemia, and an irregular heartbeat. Free long-chain fatty acids or those that are joined with carnitine can affect the electrical properties of cardiac cells causing an irregular heart beat (arrhythmia, which can lead to cardiac arrest). Fatty acids may also build up in tissues and can damage the heart, liver, and muscles, and cause more serious complications. This condition has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder.
Carnitine-acylcarnitine translocase deficiency
Carnitine palmitoyltransferase II deficiency
2,4 Dienoyl-CoA reductase deficiency
Acyl-CoA oxidase deficiency
Malonyl-CoA decarboxylase deficiency
Carnitine palmitoyltransferase I deficiency
Pyruvate kinase deficiency
Holocarboxylase synthetase deficiency