Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. There are two forms of the condition. The most severe and rarest form begins in infancy. The less severe form can begin from childhood to late adulthood.
Mutations in the LIPA gene cause lysosomal acid lipase deficiency. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in cell compartments called lysosomes, which digest and recycle materials the cell no longer needs. The lysosomal acid lipase enzyme breaks down lipids such as cholesteryl esters and triglycerides. The lipids produced through these processes, cholesterol and fatty acids, are used by the body or transported to the liver for removal.
Lysosomal acid lipase deficiency is estimated to occur in 1 in 40,000 to 300,000 individuals, varying by population. The later-onset form is more common than the early-onset form.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Vassili Valayannopoulos practices in Clermont-ferrand, France. Valayannopoulos is rated as an Elite expert by MediFind in the treatment of Lysosomal Acid Lipase Deficiency. They are also highly rated in 25 other conditions, according to our data. Their top areas of expertise are Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency, Wolman Disease, Bone Marrow Transplant, and Liver Transplant.
Hong Du practices in Guangzhou, China. Du is rated as an Elite expert by MediFind in the treatment of Lysosomal Acid Lipase Deficiency. They are also highly rated in 9 other conditions, according to our data. Their top areas of expertise are Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Wolman Disease, Gastrectomy, and Bone Marrow Transplant.
Ornella Guardamagna practices in Turin, Italy. Guardamagna is rated as an Elite expert by MediFind in the treatment of Lysosomal Acid Lipase Deficiency. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Cholesteryl Ester Storage Disease, Wolman Disease, Lysosomal Acid Lipase Deficiency, High Cholesterol, and Liver Transplant.
Summary: This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
Summary: Investigators will in a crossover study test the health effects of eating a dairy-based protein-rich breakfast, isocaloric carbohydrate-rich breakfast or no breakfast in young overweight women. Determination of satiety and hunger using visual analog scores (VAS), collection of blood samples and 2x 24 hours food logs will be collected.
Published Date: February 01, 2017Published By: National Institutes of Health