Gaucher’s disease - A Rare Disease in Children

  • 01 Aug, 2018
  • By UHAPO
  • 1775

Gaucher’s disease is a rare genetic disorder due to deficiency of an enzyme (glucocerebrosidase)in the body. It was first described by the French physician Philippe Gaucher in the nineteenth century.The defective gene is present on the first chromosome. Gaucher’s disease is an autosomal recessive type of genetic disorder. This means that the child gets the disease if both the parents carry the defective gene. Gaucher’s disease is a type of Lysosomal storage disorder (LSD). Lysosomal storage disorders (LSDs) are rare metabolic diseases. They occur when there is abnormal storage of undigested cellular debris, proteins, fats, carbohydrates, and nucleic acids within the cell. Fat gets accumulated around vital organs (spleen, liver or bone). The organs become larger in size and cannot function properly. Gaucher’s diseaseis the most common among various Lysosomal storage disorders worldwide as well as in India. Approximately, the Gaucher’s disease cases are seen in 1/57,000 to 1/75,000 births worldwide. The prevalence is higher in individuals of Ashkenazi Jewish descent (75% of the world's Jewish population). There is increased risk of having a child withGaucher’s disease in consanguineous marriages. There are three types of Gaucher’s disease (GD) – type 1, type 2 and type 3. Type 1 (non neuronopathic form of GD) is most common. Type 2 is the acute neuronopathic GD or infantile cerebral GD. Type 3 is called the chronic neuronopathic form. If the child is not treated properly, death may occur within a year or the child may become dependent. GD causes growth delays and increases the risk of Parkinsonism and certain types of cancer. It is important to start right treatment at an early age so that the chances of survival are increased.