Definitions for wolman disease
wol·man dis·ease

WikipediaRate this definition:0.0 / 0 votes

1. wolman disease

   Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body. Infants, children and adults that have LAL deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the liver, spleen, gut, in the wall of blood vessels and other important organs. Very low levels of the LAL enzyme lead to LAL deficiency. LAL deficiency typically affects infants in the first year of life. The accumulation of fat in the walls of the gut in early onset disease leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food. Because of these digestive complications, affected infants usually fail to grow and gain weight at the expected rate for their age (failure to thrive). As the disease progresses, it can cause life-threatening liver dysfunction or liver failure.Until 2015, there was no treatment, and very few infants with LAL-D survived beyond the first year of life. In 2015, an enzyme replacement therapy, sebelipase alfa, was approved in the US and EU. The therapy was additionally approved in Japan in 2016.

WikidataRate this definition:0.0 / 0 votes

1. Wolman disease

   Wolman Disease . This enzyme is necessary to break down certain lipids inside the cells. Deficiency of the LAL/LIPA enzyme causes a build-up of fat in the liver, gut and other parts of the body. ⁕Wolman disease belongs to a group of diseases known as Lysosomal Storage Disorders (LSDs). ⁕Lysosomes function as recycling centers within cells breaking down a number of unwanted materials into substances that the cell can reuse. ⁕Enzymes are highly specialized proteins within lysosomes that break down or digest particular nutrients, such as certain fats and carbohydrates. ⁕When these enzymes are defective or missing altogether because of genetic mutations, LSDs develop as a result of abnormal build-up of material in the body's cells. ⁕Wolman disease is the early onset form of LAL Deficiency. ⁕This form of the disease typically develops during the first few weeks or month of life. ⁕Late onset form which is known as Cholesteryl ester storage disease (CESD) typically presents later in childhood or even adulthood.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Wolman Disease

   The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.

How to pronounce wolman disease?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

   US English

   Tessa

   South African

How to say wolman disease in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of wolman disease in Chaldean Numerology is: 3

2. Pythagorean Numerology

   The numerical value of wolman disease in Pythagorean Numerology is: 5

References

1. ^ Wikipedia
   https://en.wikipedia.org/wiki/Wolman_Disease
2. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=wolman disease