Wolman Disease
Symptoms, Doctors, Treatments, Advances & More

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
Medical Genetics | Pediatrics
Elite in Wolman Disease
Medical Genetics | Pediatrics
2300 Childrens Plaza, 
Chicago, IL 
Languages Spoken:
English

Barbara Burton is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Burton is rated as an Elite provider by MediFind in the treatment of Wolman Disease. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Phenylketonuria (PKU), Mucopolysaccharidoses (MPS), and Cholesteryl Ester Storage Disease.

Elite in Wolman Disease
Elite in Wolman Disease
Paris, FR 

Anais Brassier practices practicing medicine in Paris, France. Ms. Brassier is rated as an Elite expert by MediFind in the treatment of Wolman Disease. She is also highly rated in 34 other conditions, according to our data. Her clinical expertise encompasses Wolman Disease, Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Kidney Transplant, and Liver Transplant.

 
 
 
 
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Elite in Wolman Disease
Elite in Wolman Disease
Turin, IT 

Ornella Guardamagna practices practicing medicine in Turin, Italy. Ms. Guardamagna is rated as an Elite expert by MediFind in the treatment of Wolman Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Cholesteryl Ester Storage Disease, Wolman Disease, Lysosomal Acid Lipase Deficiency, and High Cholesterol.

What are the latest Wolman Disease Clinical Trials?
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Registry of Patients Diagnosed With Lysosomal Storage Diseases

Summary: This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.

Who are the sources who wrote this article ?

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