Wolman disease

Common Name(s)

Wolman disease, Lysosomal acid lipase deficiency

Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. The condition is severe and life-threatening, however new therapies, such as hematopoietic cell transplantation, have shown promise in improving the outlook of children with this disease.
 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wolman disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Wolman disease" returned 14 free, full-text research articles on human participants. First 3 results:

Intragenic deletion as a novel type of mutation in Wolman disease.
 

Author(s): Teresa M Lee, Mariko Welsh, Sonia Benhamed, Wendy K Chung

Journal: Mol. Genet. Metab.. 2011 Dec;104(4):703-5.

 

Two clinically distinct disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD), are allelic autosomal recessive disorders caused by different mutations in lysosomal acid lipase (LIPA) which encodes for an essential enzyme involved in the hydrolysis of intracellular ...

Last Updated: 25 Nov 2011

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Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.
 

Author(s): Hong Du, Terri L Cameron, Stephen J Garger, Gregory P Pogue, Lee A Hamm, Earl White, Kathleen M Hanley, Gregory A Grabowski

Journal: J. Lipid Res.. 2008 Aug;49(8):1646-57.

 

Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes. Genetic LAL mutations lead to Wolman disease (WD) and cholesteryl ester storage disease (CESD). An LAL-null (lal(-/-)) mouse model resembles human WD/CESD ...

Last Updated: 14 Jul 2008

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Isolated fetal ascites caused by Wolman disease.
 

Author(s): A Ben-Haroush, Y Yogev, O Levit, M Hod, B Kaplan

Journal: Ultrasound Obstet Gynecol. 2003 Mar;21(3):297-8.

 

Wolman disease is a rare autosomal-recessive disorder caused by reduced levels of lysosomal acid lipase. It occurs in infancy and is fatal in most cases before the age of 1 year. Affected infants show signs of lipid storage in most tissues, including hepatosplenomegaly, abdominal ...

Last Updated: 31 Mar 2003

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Reviews from the PubMed Database

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The terms "Wolman disease" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Lysosomal Acid Lipase (LAL) Deficiency Registry
 

Status: Recruiting

Condition Summary: Lysosomal Acid Lipase Deficiency; Cholesterol Ester Storage Disease; Wolman Disease; Acid Cholesteryl Ester Hydrolase Deficiency, Type 2; Acid Lipase Deficiency; LIPA Deficiency

 

Last Updated: 22 Mar 2013

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Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
 

Status: Recruiting

Condition Summary: Wolman Disease (WD); Cholesteryl Ester Storage Disease (CESD); Lysosomal Acid Lipase (LAL) Deficiency

 

Last Updated: 15 Jul 2013

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Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
 

Status: Recruiting

Condition Summary: Lysosomal Acid Lipase Deficiency

 

Last Updated: 21 Nov 2014

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