Lysosomal Acid Lipase Deficiency - GeneReviews® - NCBI Bookshelf
2015年7月30日 · The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from infantile-onset form (Wolman disease) to later-onset forms, collectively known as cholesterol …
Lysosomal acid lipase deficiency - Wikipedia
Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) or Wolman Disease, is an autosomal recessive inborn error of metabolism that results in the body not producing enough active …
Lysosomal Acid Lipase Deficiency - Endotext - NCBI Bookshelf
2023年3月15日 · Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive genetic disease with variable presentation which often leads to severe morbidity and mortality. More …
Lysosomal Acid Lipase Deficiency: Symptoms, Life Expectancy - Healthline
2024年1月12日 · Lysosomal acid lipase deficiency is a rare genetic condition that causes fat to build up in your body’s cells, especially in your liver and spleen.
Lysosomal acid lipase deficiency | About the Disease | GARD
Symptoms may include hepatosplenomegaly, liver disease (cirrhosis), and malabsorption with diarrhea, vomiting, and steatorrhea. Lysosomal acid lipase deficiency is caused by genetic …
Lysosomal acid lipase deficiency - MedlinePlus
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). Explore symptoms, …
Lysosomal Acid Lipase Deficiency: Facts, Signs & Symptoms
2024年1月12日 · Lysosomal acid lipase deficiency (LAL-D) is a rare, chronic, progressive inherited disorder. It affects the body’s ability to produce an enzyme called lysosomal acid …
Clinical Features of Lysosomal Acid Lipase Deficiency
2015年11月24日 · Lysosomal acid lipase deficiency presents along an age continuum (infants to adults). Presenting features commonly include elevated serum transaminase levels, …
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and
2022年12月8日 · Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL …
Orphanet: Lysosomal acid lipase deficiency
The disease is due to mutations in the gene LIPA (10q23.2-q23.3) encoding the enzyme lysosomal acid lipase (LAL). LAL hydrolyzes cholesteryl esters and triglycerides, and thus LAL …