Gaucher disease is the disease of the lysosome, resulting from the deficiency of the glucocerebrosidase disease resulting in accumulation of its fatty substrate, glucocerebroside. This causes fat to accumulate in the brain, bone marrow, liver, lungs, kidneys, and spleen. People with Gaucher disease are prone to infection. Named after Philippe Gaucher, a French physician who originally described the disease in 1882, the disease is now known to be an autosomal recessive inheritance. Type I is most common (1 in 50,000 births), usually occurring among Ashkenazi Jewish people. Type II manifests beginning 6 months after birth, occurring in 1 in 100,000 live births. Type IIIbegins at any time in life, and occurs in 1 in 100,000 live births.

Among Ashkenazi Jews, Norrbottnian Swedes and where occurrence of Gaucher’s disease is high, it is probable that a person suspected of Gaucher’s disease will have family members previously diagnosed. Those for whom the disease is not inherited but instead randomly occur may face delayed diagnosis.

The existing treatment for Gaucher’s disease is the heftily priced Cerezyme, introduced intravenously, costing about $550,000 for a single patient. This treatment must be progressively taken for the entire duration of the life of the patient.

A symptom of Gaucher disease is sallow brown skin pigmentation. There is the absence of cardiac, pulmonary, and renal signs, and the swelling of spleen and liver. Skeletal disorders also are a symptom, causing great pain from bone lesions. 75% of people suffering from Gaucher disease develop osteoporosis. Hypersplenism or the destruction of red and white blood is also common. An uncommon symptom is cirrhosis of the liver.