Wolman Disease Overview

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Learn About Wolman Disease

What is the definition of Wolman Disease?
Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency. The lysomal acid lipase deficiency 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. Wolman disease is caused by genetic changes in the LIPA gene which provides instructions to make the lysosomal acid lipase. Inheritance is autosomal recessive.
What are the alternative names for Wolman Disease?
  • Wolman disease
  • Familial Xanthomatosis
  • Liposomal Acid Lipase Deficiency, Wolman Type
Who are the top Wolman Disease Local Doctors?
Elite in Wolman Disease
Simon A. Jones
Elite in Wolman Disease
Simon A. Jones
Manchester University NHS FT, 
Manchester, ENG, GB 

Simon Jones practices in Manchester, United Kingdom. Mr. Jones is rated as an Elite expert by MediFind in the treatment of Wolman Disease. His top areas of expertise are Cholesteryl Ester Storage Disease, Mucopolysaccharidoses (MPS), Wolman Disease, Lysosomal Acid Lipase Deficiency, and Bone Marrow Transplant.

Elite in Wolman Disease
Dr. Barbara K. Burton
Medical Genetics | Pediatrics
Elite in Wolman Disease
Dr. Barbara K. Burton
Medical Genetics | Pediatrics
2300 Childrens Plaza, 
Chicago, IL 
773-880-4462
Languages Spoken:
English
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Barbara Burton is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Burton is rated as an Elite provider by MediFind in the treatment of Wolman Disease. Her top areas of expertise are Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Phenylketonuria (PKU), Mucopolysaccharidoses (MPS), and Cholesteryl Ester Storage Disease.

 
 
 
 
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Elite in Wolman Disease
Anais Brassier
Elite in Wolman Disease
Anais Brassier
Paris, FR 

Anais Brassier practices in Paris, France. Ms. Brassier is rated as an Elite expert by MediFind in the treatment of Wolman Disease. Her top areas of expertise are Cholesteryl Ester Storage Disease, Wolman Disease, Lysosomal Acid Lipase Deficiency, Kidney Transplant, and Liver Transplant.

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What are the latest Wolman Disease Clinical Trials?
An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency
An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency
Enrollment Status: Recruiting
Publish Date: May 25, 2025

Summary: This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency. Participation in the Registry by both physicians and patients is voluntary.

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PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Who is this study for: Pregnant women age 18 to 50 carrying fetuses between 18 to 34 weeks gestation diagnosed with lysosomal storage disorders
Enrollment Status: Recruiting
Publish Date: March 11, 2025
Intervention Type: Drug
Study Drug: Aldurazyme (laronidase)
Study Phase: Phase 1

Summary: For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.

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Who are the sources who wrote this article ?

Published Date: May 06, 2022
Published By: Genetic and Rare Diseases Informnation Center