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Wolman Disease

AN

Andy Nyholm

Transcript

By Andrew Nyholm

Wolman's Disease

Addition Symptoms

  • Lipid build up in the spleen, bone marrow, liver, lymph nodes, small hormone-producing glands on top of each kidney, and/or the small intestines

Treatments

  • Most lysosomal storage disorders can be cured .
  • Wolman's disease does not have a cure.
  • The symptoms can be treated through the injection of vital nutrients.
  • There has been only one successful long term treatments.

Symptoms

What is a Lysosomal Storage Disorder?

This is a disorder that affects how a lysosome functions.

  • Enlarged liver and spleen
  • Poor weight gain
  • Low muscle gain
  • Yellow tint to the skin and eyes
  • Vomiting and diarrhea
  • Developmental delay
  • Anemia
  • Poor absorption of nutrients

Discovery

Moshe Wolman discovered the disease in 1954 when studying other lysosomal storage disorders.

This disease is a lysosomal storage disorder

Additional Names

  • Acid lipase deficiency
  • Familial Xanthomatosis
  • LAL deficiency
  • LIPA deficiency
  • Liposomal Acid Lipase Deficiency- Wolman Type

How does this type of disease work?

  • A mutation occurs in the DNA
  • The mutation causes a wrong formed enzyme
  • That enzyme, if used in the Lyposome, cannot digest it's substrate.
  • The substate builds up and clogs the lyposome.
  • The cell does not recieve the products made by the enzyme.

What is a Lysosome?

-An organelle

- The digestive system of the cell.

-Uses enzymes to break apart molecules

-Has a Phospholipid bilayer

How is it Inherited?

  • The mutated LIPA gene is an autosomal recessive gene.
  • If both genes have the mutated, there is only a 5% chance of normal lysosome function.

Websites Used

What does mutation does Wolman's disease have?

  • There are more than one mutations with the potential.
  • The most common is a splice-site mutation.
  • Replaces an Adenine with a Guanine
  • Ends Polypeptide 24 amino acids short.

http://www.nature.com/bmt/journal/v26/n5/full/1702557a.html

http://ghr.nlm.nih.gov/gene/LIPA

http://ghr.nlm.nih.gov/condition/wolman-disease

http://www.disabled-world.com/disability/types/wolman-disease.php

Severity?

Chromosome 10

  • Affects around 1 out of every 350,000 people
  • The majority of infants with this disease do not live through their first year.