<unk>  is a genetic disease that is autosomal recessive. It is an inborn error of metabolism that causes a<unk>  storage disease. The condition is caused by a mutation of the LIPA gene, which is responsible for the gene coding of the<unk>  lipase protein (also called<unk> <unk>  lipase or LAL), which results in a loss of the protein's normal function. When LAL functions normally, it breaks down cholesteryl esters and triglycerides in low density lipoprotein particles into free cholesterol and free fatty<unk> s that the body can reuse; when LAL doesn't function, cholesteryl esters and triglycerides build up in the liver, spleen and other organs. The accumulation of fat in the walls of the gut and other organs in leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food, persistent and often forceful vomiting, frequent diarrhea, foul-smelling and fatty stools (steatorrhea), and failure to grow.<unk> es occur when a person has defects (mutations) in both copies of the LIPA gene. Each parent of a person with LAL deficiency carries one copy of the defective LIPA gene. With every pregnancy, parents with a son or daughter affected by LAL deficiency have a 1 in 4 (25%) chance of having another affected child. A person born with defects in both LIPA genes is not able to produce adequate amounts of the LAL enzyme.
Lysosomal acid lipase deficiency
Acyl-CoA oxidase deficiency
2,4 Dienoyl-CoA reductase deficiency
Glycerol kinase deficiency
Mitochondrial trifunctional protein deficiency
Lipoprotein lipase deficiency
Lecithin cholesterol acyltransferase deficiency
Holocarboxylase synthetase deficiency