<unk>  has an autosomal recessive pattern of inheritance. Mutations in the CPT1A gene cause<unk>  by producing a defective version of an enzyme called<unk>  palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed. As a result, excessive levels of long-chain fatty acids may more rapidly build up in tissues, damaging the liver, heart and/or brain. This condition has an autosomal recessive inheritance pattern, which means the defective gene must be inherited from both parents. 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. The prevalence of mutations associated with this condition reach 68% to 81% in certain arctic coastal populations, suggesting that the condition had some adaptive value in those habitats at some time. Fewer than 50 people have been identified with this condition.
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Acyl-CoA oxidase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency