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Gaucher’s Disease – Causes and Symptoms of Gaucher’s Disease

Gaucher’s disease is a rare, inherited disorder that causes accumulation of fatty substance called glucocerebroside in bones, lungs, liver, spleen and brain in rare cases. This accumulation interferes with the normal functioning of these organs. There are three types of gaucher’s disease – type 1, type 2 and type 3 based on where the accumulation occurs.

Gaucher’s disease results from the deficiency of glucocerebrosidase enzyme that is involved in breakdown and recycling of glucocerebroside. This disorder is common in Eastern and Central European Jewish people (Ashkenazi population). It affects about 1 in 450 people and according to world’s statistics, it affects about 1 in 100,000 people.

Causes of Gaucher’s Disease

Gaucher’s disease is caused as a result of deficiency of enzyme glucocerebrosidase. The normal function of the enzyme is to break down the fatty substances called glucocerebrosides. These fatty substances build up in brain and other organs when the enzyme is scarce as the substances cannot be broken down.

Gaucher’s disease is an inherited disorder. The pattern of inheritance is autosomal recessive i.e the child develops the condition only when both the parents are carriers. The carriers carry the responsible mutation on their gene and are known to be unaffected by the particular disease. The child has only 25 % chance of developing the disease, 25 % chance of being unaffected and 50 % of being unaffected carrier.

Symptoms of Gaucher’s Disease

Symptoms vary depending on the type of gaucher’s disease. The three types of disease and their symptoms are:

Type 1 – This accounts for 90 % of cases and is most common and mild type. Brain is not affected in this type. The symptoms include:

  • Nose bleeds
  • Delayed puberty
  • Yellow spots in the eyes
  • Bruises occur easily due to low number of blood platelets
  • Excessive fatigue
  • Decrease in red blood cells
  • Enlarged spleen and liver
  • Skeletal abnormalities, including bone fractures, bone pain and thinning of bones

Type 2 – This is the most severe and rarer type of gaucher’s disease. The disease develops in infants and most children die by age 2. It causes severe brain damage. The symptoms include:

  • Seizures
  • Rigidity
  • Cognitive retardation that includes dementia or mental retardation

Type 3 – This is rarer type of gaucher’s disease. It is a chronic disorder and begins in infancy or adulthood. The symptoms include:

  • Loss of muscle coordination
  • Abnormal eye movements
  • Cognitive deterioration that includes dementia or mental retardation

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