Lysosomal Storage Disease

(Glycoprotein Storage Diseases; Mucopolysaccharidoses; MPS)

Definition

Lysosomal storage disease is a group of disorders that affect specific enzymes. These enzymes normally break down items for reuse in the cells. If the enzymes are missing or don't work properly the items can build up and become toxic. This occurs in an area of the cell called lysosomes. The build up eventually leads to damage of cells and organs in the body.There are over 40 different types of lysosomal diseases. The diseases are characterized by the specific enzymes involved:
  • Fabry Morquio’s disease—affects the kidney, heart, and skin
  • Gaucher disease —affects the spleen and bones, and causes anemia
  • Hurler’s syndrome—affects the spleen, liver, joints, and eyes; causes intellectual disability and deafness
  • Maroteaux-Larny disease—affects the skin, bones, liver, and spleen
  • Niemann-Pick disease —affects the spleen, liver, and lungs
  • Pompe disease—affects the liver, heart, and muscle tissue
  • Tay-Sachs disease —affects the brain

Causes

Lysosomal storage disease is caused by a genetic problem. The genes that plan the production of the enzymes is faulty. Both parents must pass the gene on to the child in order for the disease to develop.
Genetic Material
Chromosome DNA
Copyright © Nucleus Medical Media, Inc.

Risk Factors

Lysosomal storage disease is more common in families with Ashkenazi Jewish, Finnish, or Dutch heritage. A family history increases the chance of the disease as well.

Symptoms

Symptoms can be severe and appear shortly after birth or mild and detected later in life. Symptoms will depend on the specific type of disease. Some common symptoms include:
  • Recurrent infections or hernias
  • Developmental delays
  • Problems with hearing or sight
  • Problems including pain with bones
  • Problems with heart
These symptoms may be caused by other conditions. If your child has any of these symptoms, talk to the doctor right away.

leave comments
0
Did you like this? Share with your family and friends.
Related Topics:
Current Research From Top Journals


Early Peanut Consumption Associated with Lower Risk of Peanut Allergy in High Risk Children
March 2015

Many medical groups felt that early exposure to certain foods like peanuts increased a child's risk of developing food allergies. However, newer research including this trial suggest that early exposure may actually decrease the risk of developing food allergies.

dot separator
previous editions

Breastfeeding May Decrease the Risk of Childhood Obesity
February 2015

Tonsillectomy May Reduce Number of Sore Throat Days in Children
February 2015

Research Review Finds Little Support for Nearly Half of Medical Talk Show Recommendations
January 2015

dashed separator

Advertisement

Our Free Newsletter
click here to see all of our uplifting newsletters »

 

Advertisement

Advertisement

DiggDeliciousNewsvineRedditStumbleTechnoratiFacebook