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Wolman Disease (Wolman's 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.
Also Known As:
Wolman's Disease; Acid Lipase Deficiency; Cholesterol ester hydrolase deficiency; Familial Xanthomatosis; LAL Deficiency; Liposomal Acid Lipase Deficiency, Wolman Type; Wolman Disease with Hypolipoproteinemia and Acanthocytosis; Acid Lipase Deficiencies; Acid Lipase Diseases; Deficiencies, Acid Lipase; Deficiencies, LAL; Deficiencies, LIPA; Deficiency, Acid Lipase; Deficiency, LAL; Deficiency, LIPA; Disease, Acid Lipase; Disease, Wolman; Disease, Wolman's; Diseases, Acid Lipase; Familial Xanthomatoses; LAL Deficiencies; LIPA Deficiencies; Lipase Deficiencies, Acid; Lipase Deficiency, Acid; Lipase Disease, Acid; Lipase Diseases, Acid; Wolman's Xanthomatosis; Wolmans Disease; Xanthomatoses, Familial; Xanthomatosis, Wolman; Xanthomatosis, Wolmans; Acid Cholesteryl Ester Hydrolase Deficiency, Type 2; Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type; Acid Lipase Disease; LIPA Deficiency; Lysosomal Acid Lipase Deficiency; Xanthomatosis, Familial; Xanthomatosis, Wolman's
Networked: 283 relevant articles (12 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Cholesterol Ester Storage Disease
2. Inborn Genetic Diseases (Disease, Hereditary)
3. Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
4. Smith-Lemli-Opitz Syndrome
5. Sitosterolemia

Experts

1. Marulkar, Sachin: 8 articles (01/2022 - 01/2017)
2. Du, Hong: 8 articles (11/2017 - 07/2002)
3. Balwani, Manisha: 6 articles (01/2022 - 11/2014)
4. Jones, Simon A: 5 articles (03/2021 - 11/2014)
5. Tylki-SzymaƄska, Anna: 5 articles (01/2021 - 01/2014)
6. Abel, Florian: 4 articles (01/2022 - 01/2020)
7. Burton, Barbara K: 4 articles (01/2022 - 09/2015)
8. Ficicioglu, Can: 4 articles (01/2022 - 09/2015)
9. Pisciotta, Livia: 4 articles (10/2021 - 03/2012)
10. Tozzi, Giulia: 4 articles (10/2021 - 10/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Wolman Disease:
1. Sebelipase alfaIBA
2. EnzymesIBA
3. Sterol Esterase (Hormone-Sensitive Lipase)IBA
4. LipidsIBA
5. CholesterolIBA
6. Transaminases (Aminotransferases)IBA
7. AntigensIBA
8. OxysterolsIBA
9. Cholesterol Esters (Cholesteryl Esters)IBA
10. Lipase (Acid Lipase)FDA Link

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Cell Transplantation
3. Intravenous Infusions
11/01/2015 - "The agent, administered by intravenous infusion once weekly or once every other week, acts to replace the deficient enzyme activity in patients with LAL deficiency, reducing lysosomal lipid accumulation, and thereby improving disease-related abnormalities such as dyslipidaemia and liver abnormalities. "
01/01/2021 - "• Lysosomal acid lipase deficiency (LAL-D) is a rare, inherited disease in which fatty material (cholesterol and triglycerides) becomes trapped in cells throughout the body, causing organ damage.• Infants can experience a particularly aggressive form of this disease where the functioning of the liver and intestine is impaired, thus leading to an enlarged abdomen and failure to grow and thrive.• If left untreated, LAL-D in infants leads to death, usually by 6 months of age.• This publication reports the results from 2 studies involving 19 infants with rapidly progressive LAL-D; infants received once-weekly intravenous infusions of sebelipase alfa for up to 3 or 5 years, depending on the study.• Results show that with sebelipase alfa treatment, the likelihood of an infant with LAL-D surviving to 12 months of age is 79% and the likelihood of surviving to 5 years of age is 68%.• Throughout both studies, treatment with sebelipase alfa was associated with (1) improvements in growth (weight, length/height, and arm circumference), (2) improvements in liver function, and (3) a decrease in liver and spleen size.• All patients experienced 1 or more adverse events (unwanted side effects), most of which were mild or moderate in severity; no patient stopped receiving treatment because of these events."
4. Therapeutics
5. Hematopoietic Stem Cell Transplantation