Gaucher Disease is an autosomal recessive disease and the most common Lysosomal Storage Disorder, with an incidence of about 1 in 100,000 live births. It is caused by deficiency of a specific enzyme (glucocerebrosidase) in the body, caused by a genetic mutation received from both parents (autosomal recessive inheritance). This leads to an accumulation of the enzyme's substrate, glucocerebroside, which results in it being stored in the spleen, liver, kidneys, lungs, brain and bone marrow. Each disease course can be variable, ranging from no outward symptoms to severe disability and death.
Types of Gaucher Disease
Type I, the most common, also called the 'non-neuropathic' type is characterised by the problems listed above. This is often called the adult form, although the cause is present from the time of conception. The median age at diagnosis is 28 years of age, and life expectancy is mildly decreased. In most cases there are no essential neurological symptoms.
Type II, also called acute neuronopathic Gaucher disease, is very rare and characterised by rapidly progressive neurological problems in babies. Formerly called infantile Gaucher disease, Type 2 is described by severe neurological involvement in the first year of life. Fewer than 1 in 100,000 newborns have Type 2 disease. Prognosis is dismal: An afflicted child usually does not live past the age of 2 years, due to the severe involvement of the nervous system.
Type III, also called neuronopathic Gaucher disease is also very rare but differing from Type II, it is characterized by slowly progressive neurologic symptoms. The signs and symptoms of Type 3 Gaucher disease appear later in childhood than the symptoms of Type 2 Gaucher Disease.
Read more on Gaucher disease on the EGA web site: https://www.eurogaucher.org/gb/information/about_gaucher
Source: European Gaucher Alliance