Summary   Summary
Featured Diseases & Conditions
Health Awareness Articles
Symptom Checker

Symptom Checker
Just click on a body part, choose your symptom and search through a world of health information.


Search Diseases

Search Disease

Gaucher Disease

Overview :

Gaucher disease was first described by the French physician Philippe Gaucher in 1882. It is the most common of a class of diseases called lysosomal storage diseases, each of which is characterized by the accumulation of a specific chemical substance (a different substance depending on the exact disease). Gaucher disease is characterized by a wide array of different symptoms and the severity of the disease ranges from undetectable to lethal.

Three forms of the disease are recognized: Types I, II and III. Type I is by far the most common and shows the mildest symptoms. It is non-neuronopathic, meaning that the nervous system is not attacked. The onset of Type I can occur at any age in childhood or adult life with the average age of onset at about 21 years. Some affected individuals are have no symptoms throughout adult life. Type II, the infantile form, accounts for less than 1% of patients with Gaucher disease. It is neuronopathic (attacks the nervous system); nervous system effects are severe, and victims often die within the first year of life. Type III most often has its onset during childhood and has some of the features of both the adult and infantile forms. This affects less than 5% of persons with Gaucher disease.

Gaucher disease is caused by the absence, or near absence, of activity of an enzyme called glucocerebrosidase (GC). The normal action of GC is to break down a common molecule called glucocerebroside. If not broken down, glucocerebroside accumulates in certain cells to levels that can cause damage, especially in the spleen, liver, and bone. The common link among these organs is that they house a cell type called a macrophage. A macrophage is a large cell that surrounds and consumes a foreign substance (such as bacteria) in the body. The cellular structures in which glucocerebroside accumulates are called lysosomes.

The three forms of Gaucher disease also differ in their population genetics. Type I is most common in persons of eastern European (Ashkenazi) Jewish descent. Among this population, the disease occurs at a rate of one in 450 live births and about one in 10 to 15 persons are carriers, making it the most common genetic disease affecting Jewish people. The other two types are equally frequent in all ethnic groups. Type II occurs at a rate of one in 100,000 live births, while Type III is estimated to occur in one in 50,000 live births.

 Image Gallary
Search for information related to Health and wellness
Health Centers
Cardiology and HeartMen's HealthWomen's HealthMother + ChildDiabetesStressInfectious DiseaseSkinEyeCancerStop SmokingWeight ManagementSexual HealthBlood Pressure ManagementAsthmaPregnancy and Child BirthAllergyHair LossDengueCold and FluSore ThroatADHDDental & Oral HealthHigh CholesterolDepressionPolioBreast CancerFood PoisonSnoringConjunctivitisCervical CancerJaundiceGeneral HealthMigraine / HeadacheThyroidBlood SugarProstate CancerKidney DiseaseAnxietyArthritisAutismBipolar DisorderCOPDCaregivingCrohn's DiseaseEpilepsyErectile DysfunctionHealthy AgingIncontinenceMeningitisMenopauseMultiple SclerosisOsteoporosisPain ManagementParkinson's DiseaseRelationshipsSleep ManagementStomach & DigestiveOsteoarthritisPertussisOveractive BladderRheumatoid ArthritisTonsils
Search for information related to Health and wellness
Health Pages
blood pressure cancer cholesterol test diabetes diets erectile dysfunction hair loss health health articles healthy living heart diseases high cholesterol pregnancy reduce weight vagina weight wellness health plan sexual problems lower cholesterol heart attack women health asthma weight loss anxiety back problems disease symptoms immunization for children indian home remedies indian recipes Manage weight pathology tests stress cost for abortion at home abortion methods best diet for high cholesterol prabhakar mishra cancer song dental insurances swine flu vaccine deaths vagina mastrubation frozen chicken breasts blood triglyceride levels pregnancy timeline childbirth lean cuisine dinnertime selects painful woman employer wellness programs