About glucocerebrosidase deficiency

What is glucocerebrosidase deficiency?

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symptoms (asymptomatic); others may have serious complications. Common manifestations of Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets(thrombocytopenia), and skeletal abnormalities. Platelets are blood cells that promote clotting and patients with thrombocytopenia may develop bleeding problems. Three separate forms of Gaucher disease have been identified and are distinguished by the absence of, or the presence and extent of, neurological complications. All three forms of Gaucher disease are inherited as autosomal recessive traits.

Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain sugar (glucose) containing fat, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. Gaucher disease is the most common type of lysosomal storage disorder.

What are the symptoms for glucocerebrosidase deficiency?

Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.

Most people who have Gaucher disease have varying degrees of the following problems:

  • Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
  • Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
  • Blood disorders. A decrease in healthy red blood cells (Anemia) can result in severe Fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.

More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and Seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.

What are the causes for glucocerebrosidase deficiency?

Autosomal recessive inheritance pattern Open pop-up dialog box Close Autosomal recessive inheritance pattern Autosomal recessive inheritance pattern

To have an autosomal recessive disorder, you inherit two changed genes (mutations), one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one changed gene (recessive gene) and one unaffected gene (dominant gene) for the condition. Two carriers have a 25% chance of having an unaffected child with two unaffected genes (left), a 50% chance of having an unaffected child who also is a carrier (middle), and a 25% chance of having an affected child with two recessive changed genes (right).

Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.

What are the treatments for glucocerebrosidase deficiency?

While there's no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don't need treatment.

Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you'll need to be monitored will depend on your situation.


Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with:

  • Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. These replacement enzymes are given in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people have an allergic or hypersensitivity reaction to enzyme treatment.
  • Miglustat (Zavesca). This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher disease. Diarrhea and weight loss are common side effects.
  • Eliglustat (Cerdelga). This drug also seems to inhibit the production of fatty substances that build up in people with the most common form of Gaucher disease. Possible side effects include fatigue, headache, nausea and diarrhea.
  • Osteoporosis drugs. These types of medication can help rebuild bone weakened by Gaucher disease.

Surgical and other procedures

If your symptoms are severe and you're not a candidate for less invasive treatments, your doctor might suggest:

  • Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
  • Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher disease. Now this procedure typically is used as a last resort.

What are the risk factors for glucocerebrosidase deficiency?

People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.

Is there a cure/medications for glucocerebrosidase deficiency?

A deficiency of the glucocerebrosidase enzyme causes the inherited (genetic) disorder known as Gaucher disease. Due to a lack of the enzyme glucocerebrosidase, Gaucher disease, also known as glucocerebrosidase deficiency, is a genetic disorder that causes aberrant accumulations of the fatty compounds known as glycolipids in various human tissues.

There are numerous terms that can be used to describe Gaucher disease. In medical terminology, Gaucher disease is sometimes referred to as kerasin lipoidosis, kerasin thesaurismosis, lipid histiocytosis (kerasin type), sphingolipidosis 1, glucocerebrosidase deficiency, glucocerebrosidosis, glucosylceramidase deficit, glucosylceramide deficiency, glucosy.

Cure/medications for glucocerebrosidase deficiency:

  • Although there is no known cure for glucocerebrosidase deficiency, there are effective medication options.
  • The method has the following treatment for patients with type 1 Gaucher disease as well as for the non-neurologic symptoms of type 3 glucocerebrosidase deficiency condition is enzyme replacement therapy (ERT).
  • The medication is administered intravenously, often every two weeks. Imigglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso) are the three ERT medications that are currently accessible.
  • Drugs that prevent the generation of the sphingolipids that build up in cells and produce symptoms are also available to treat Gaucher disease. These medications, referred to as glucosylceramide synthase inhibitors, are administered orally.
  • Miglustat (Zavesca) and eliglustat (Cerdegla) are two medications in this class.

Anemia (low red blood cell count),Fatigue (tiredness),Low platelet count, that can lead to easy bruising,Enlarged spleen and liver (hepatosplenomegaly)
Imigglucerase (Cerezyme),Velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso),Miglustat (Zavesca) and eliglustat (Cerdegla)
Abdominal complaints,Enlarged liver and especially the spleen,Skeletal abnormalities,Weakened bone,Blood disorders

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