Storage Disease, Disease Disease 4/5 (2)

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Storage Disease. Scarpa M, EPMA J (2011). CC Openi


Storage Diseases are called Lysosomal Storage Disease (LSD) and are a group of diseases that include 49 diagnoses (per 2019). In common, they are genetically (hereditary) and that large molecules (macromolecules) cluster in the organs of the body. Some cases occur spontaneously mutation. Thus, the function of the affected organs is gradually reduced. The organs that are attacked differ between the different storage diseases. Often, damage to the liver, spleen and heart occurs, in some cases the brain. Most storage diseases are detected at an early age.

Disease Cause

The cause of the disease is a lack of important enzymes that should have been produced in the cells lysosomes. In each condition, it is usually a single enzyme that does not work normally. Thus, different types of disease occur.


Diseases have different age at type of symptoms, different severity and attacks on different organs. Some signs of disease among children with storage disorder:

  • Delayed development
  • Growth failure
  • Increasing size of liver and spleen
    • Increasing belly circumference
  • Gradually heart failure
    • Striking heavy breathing at physical stress
    • Fluid in the legs
    • Cold, bluish hands
  • Reduced hearing and sight
  • Seizures (epilepsy-like)


When the symptoms give rise to suspicion of storage disease or hereditary disposition, blood tests are being investigated for enzyme deficiency. In special cases, analyzes of genes can also be done.


The treatment options are different for the different storage diseases. In some cases it is used stem cell transplant (from bone marrow or umbilical cord blood) or supplementation of the missing enzymes. However, the treatments are not curative.

  • It is being researched on gene therapy which can cure the diseases
  • Unfortunately, many still die children with storage illness within months to years

Different types of storage disorder

The various storage diseases can be divided according to the type of molecules that are incorrectly stored in the body. Each disease group has in part many subgroups that make up the 49 known diseases. Many are listed in the reference (Reference: Wikipedia 2018). Here are the main groups:

Cystinosis (Amino acid defect)

Glycoprotein storage disease

Glycogen storage disease type II (Pompe Disease)

Lipid (fatty) storage disorder




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