BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuGaucher diseaseGlucocerebrosidase deficiency; Glucosylceramidase deficiency; Lysosomal storage disease - Gaucher; Gaucher's diseaseGaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). Causes Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease.It is an autosomal recessive disease. This means that the mother and father must both pass one variant copy of the disease gene to their child in order for the child to develop the disease. A parent who carries one variant copy of the gene, but doesn't have the disease, is called a silent carrier.Autosomal recessiveAutosomal recessive is one of several ways that a genetic trait, disorder, or disease can be passed down through families. An autosomal recessive dis...ImageRead Article Now Book Mark Article The lack of GBA causes harmful substances to build up in the liver, spleen, bones, and bone marrow. These substances prevent cells and organs from working properly.There are three main subtypes of Gaucher disease:Type 1 is most common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). Type 1 affects both children and adults. It is most common in the Ashkenazi Jewish population. AnemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...ImageRead Article Now Book Mark Article ThrombocytopeniaThrombocytopenia means there is an abnormally low amount of platelets. Platelets are parts of the blood that help blood to clot. This condition is ...Read Article Now Book Mark Article Type 2 usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death. Type 3 may cause liver, spleen, and brain problems. People with this type may live into adulthood. Symptoms Bleeding because of low platelet count is the most common symptom seen in Gaucher disease. Other symptoms may include:Bone pain and fractures Bone painBone pain or tenderness is aching or other discomfort in one or more bones.ImageRead Article Now Book Mark Article Cognitive impairment (decreased thinking ability) Easy bruising Enlarged spleen Enlarged spleenSplenomegaly is a larger-than-normal spleen. The spleen is an organ in the upper left part of the belly.ImageRead Article Now Book Mark Article Enlarged liver Enlarged liverEnlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...ImageRead Article Now Book Mark Article Fatigue FatigueFatigue is a feeling of weariness, tiredness, or lack of energy.ImageRead Article Now Book Mark Article Heart valve problems Lung disease (rare) Seizures SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Severe swelling at birth SwellingSwelling is the enlargement of organs, skin, or other body parts. It is caused by a buildup of fluid in the tissues. The extra fluid can lead to a ...ImageRead Article Now Book Mark Article Skin changes Exams and Tests Your health care provider will perform a physical exam and ask about the symptoms.The following tests may be done:Blood test to look for enzyme activity Bone marrow aspiration Bone marrow aspirationBone marrow is the soft tissue inside bones that helps form blood cells. It is found in the hollow part of most bones. Bone marrow aspiration is th...ImageRead Article Now Book Mark Article MRI MRIA magnetic resonance imaging (MRI) scan is an imaging test that uses powerful magnets and radio waves to create pictures of the body. It does not us...ImageRead Article Now Book Mark Article CT CTA computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...ImageRead Article Now Book Mark Article X-ray of the skeleton X-ray of the skeletonA skeletal x-ray is an imaging test used to look at your bones. It is used to detect fractures, tumors, or conditions that cause wearing away (degen...ImageRead Article Now Book Mark Article Genetic testing Treatment Gaucher disease can't be cured. But treatments can help regulate and may improve symptoms.Medicines may be given to:Replace the missing GBA (enzyme replacement therapy) to help reduce spleen size, bone pain, and improve thrombocytopenia. Limit production of fatty chemicals that build up in the body.Other treatments include:Medicines for pain Surgery for bone and joint problems, or to remove the spleen Blood transfusions Blood transfusionsThere are many reasons you may need a blood transfusion:After knee or hip replacement surgery, or other major surgery that results in blood lossAfter...Read Article Now Book Mark Article Support Groups These groups can provide more information on Gaucher disease:National Gaucher Foundation -- www.gaucherdisease.org MedlinePlus - Gaucher disease.-- medlineplus.gov/genetics/condition/gaucher-disease/ National Organization for Rare Diseases -- rarediseases.org/rare-diseases/gaucher-disease/ Outlook (Prognosis) How well a person does depends on their subtype of the disease. The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5.Adults with the type 1 form of Gaucher disease can expect a normal life expectancy with enzyme replacement therapy. Possible Complications Complications of Gaucher disease may include: Seizures Anemia Thrombocytopenia Bone problems Prevention Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if both parents carry one variant copy of the gene and thus could pass on the Gaucher disease. A prenatal test can also tell if a baby in the womb has Gaucher disease.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article Open ReferencesReferencesKliegman RM, St. Geme JW, Blum NJ, et al. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 106.Krasnewich DM, Sidransky E. Lysosomal storage diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 192.Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.AllVideoImagesTogGaucher cell - photomicrograph - illustration Gaucher disease is called a lipid storage disease where abnormal amounts of lipids called glycosphingolipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.Gaucher cell - photomicrographillustrationGaucher cell - photomicrograph #2 - illustration Gaucher disease is called a lipid storage disease where abnormal amounts of lipids called glycosphingolipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.Gaucher cell - photomicrograph #2illustrationHepatosplenomegaly - illustration Liver and spleen enlargement (hepatosplenomegaly) can occur as the result of an inherited disorder in which the liver cannot process glucocerebroside. The buildup of this substance in body tissues can cause severe damage to the central nervous system in infants.HepatosplenomegalyillustrationGaucher cell - photomicrograph - illustration Gaucher disease is called a lipid storage disease where abnormal amounts of lipids called glycosphingolipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.Gaucher cell - photomicrographillustrationGaucher cell - photomicrograph #2 - illustration Gaucher disease is called a lipid storage disease where abnormal amounts of lipids called glycosphingolipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.Gaucher cell - photomicrograph #2illustrationHepatosplenomegaly - illustration Liver and spleen enlargement (hepatosplenomegaly) can occur as the result of an inherited disorder in which the liver cannot process glucocerebroside. The buildup of this substance in body tissues can cause severe damage to the central nervous system in infants.HepatosplenomegalyillustrationRelated Information Seizures(Symptoms)Osteonecrosis(Condition) Review Date: 11/6/2024 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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Gaucher diseaseGlucocerebrosidase deficiency; Glucosylceramidase deficiency; Lysosomal storage disease - Gaucher; Gaucher's diseaseGaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). Causes Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease.It is an autosomal recessive disease. This means that the mother and father must both pass one variant copy of the disease gene to their child in order for the child to develop the disease. A parent who carries one variant copy of the gene, but doesn't have the disease, is called a silent carrier.Autosomal recessiveAutosomal recessive is one of several ways that a genetic trait, disorder, or disease can be passed down through families. An autosomal recessive dis...ImageRead Article Now Book Mark Article The lack of GBA causes harmful substances to build up in the liver, spleen, bones, and bone marrow. These substances prevent cells and organs from working properly.There are three main subtypes of Gaucher disease:Type 1 is most common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). Type 1 affects both children and adults. It is most common in the Ashkenazi Jewish population. AnemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...ImageRead Article Now Book Mark Article ThrombocytopeniaThrombocytopenia means there is an abnormally low amount of platelets. Platelets are parts of the blood that help blood to clot. This condition is ...Read Article Now Book Mark Article Type 2 usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death. Type 3 may cause liver, spleen, and brain problems. People with this type may live into adulthood. Symptoms Bleeding because of low platelet count is the most common symptom seen in Gaucher disease. Other symptoms may include:Bone pain and fractures Bone painBone pain or tenderness is aching or other discomfort in one or more bones.ImageRead Article Now Book Mark Article Cognitive impairment (decreased thinking ability) Easy bruising Enlarged spleen Enlarged spleenSplenomegaly is a larger-than-normal spleen. The spleen is an organ in the upper left part of the belly.ImageRead Article Now Book Mark Article Enlarged liver Enlarged liverEnlarged liver refers to swelling of the liver beyond its normal size. Hepatomegaly is another word to describe this problem. If both the liver and ...ImageRead Article Now Book Mark Article Fatigue FatigueFatigue is a feeling of weariness, tiredness, or lack of energy.ImageRead Article Now Book Mark Article Heart valve problems Lung disease (rare) Seizures SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Severe swelling at birth SwellingSwelling is the enlargement of organs, skin, or other body parts. It is caused by a buildup of fluid in the tissues. The extra fluid can lead to a ...ImageRead Article Now Book Mark Article Skin changes Exams and Tests Your health care provider will perform a physical exam and ask about the symptoms.The following tests may be done:Blood test to look for enzyme activity Bone marrow aspiration Bone marrow aspirationBone marrow is the soft tissue inside bones that helps form blood cells. It is found in the hollow part of most bones. Bone marrow aspiration is th...ImageRead Article Now Book Mark Article MRI MRIA magnetic resonance imaging (MRI) scan is an imaging test that uses powerful magnets and radio waves to create pictures of the body. It does not us...ImageRead Article Now Book Mark Article CT CTA computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...ImageRead Article Now Book Mark Article X-ray of the skeleton X-ray of the skeletonA skeletal x-ray is an imaging test used to look at your bones. It is used to detect fractures, tumors, or conditions that cause wearing away (degen...ImageRead Article Now Book Mark Article Genetic testing Treatment Gaucher disease can't be cured. But treatments can help regulate and may improve symptoms.Medicines may be given to:Replace the missing GBA (enzyme replacement therapy) to help reduce spleen size, bone pain, and improve thrombocytopenia. Limit production of fatty chemicals that build up in the body.Other treatments include:Medicines for pain Surgery for bone and joint problems, or to remove the spleen Blood transfusions Blood transfusionsThere are many reasons you may need a blood transfusion:After knee or hip replacement surgery, or other major surgery that results in blood lossAfter...Read Article Now Book Mark Article Support Groups These groups can provide more information on Gaucher disease:National Gaucher Foundation -- www.gaucherdisease.org MedlinePlus - Gaucher disease.-- medlineplus.gov/genetics/condition/gaucher-disease/ National Organization for Rare Diseases -- rarediseases.org/rare-diseases/gaucher-disease/ Outlook (Prognosis) How well a person does depends on their subtype of the disease. The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5.Adults with the type 1 form of Gaucher disease can expect a normal life expectancy with enzyme replacement therapy. Possible Complications Complications of Gaucher disease may include: Seizures Anemia Thrombocytopenia Bone problems Prevention Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if both parents carry one variant copy of the gene and thus could pass on the Gaucher disease. A prenatal test can also tell if a baby in the womb has Gaucher disease.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article Open ReferencesReferencesKliegman RM, St. Geme JW, Blum NJ, et al. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 106.Krasnewich DM, Sidransky E. Lysosomal storage diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 192.Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.
