Gaucher Disease
Gaucher Disease
Gaucher is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids). It can have serious effects on numerous body organs including the liver, spleen, bones and central nervous system.
Gaucher disease has three common clinical subtypes. Type 1, which is the most common form of the disease. Type 2, which typically begin within 3 months of birth, and Type 3, which can begin at any time in childhood or even in adulthood. The symptoms associated with Gaucher disease differ significantly from case to case. Several individuals will develop few or no symptoms; others may have serious complications. Common symptoms include an unusually enlarged liver, low levels of red blood cells or best known as anemia, low levels of platelets, and skeletal abnormalities. Platelets are blood cells that promote clotting and patients with thrombocytopenia may develop bleeding problems. All three forms of Gaucher disease are inherited as autosomal recessive traits. Both parents must be carriers in order for a child to be affected. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who might be carriers of mutation.
Gaucher disease occurs most often among persons of Ashkenazi Jewish heritage, but people from other ethnics groups can also be affected. This disease “(Type 1) affects 1 in 100,000 of the general population” (Gaucher Disease, Gaucher 1).
The treatment for this disease is Enzyme replacement therapy (ERT) which stops and reverses the symptoms and improves quality of life of the person. This treatment method is used to replace missing enzymes. Also, with this treatment it is possible to replace enzymes and then inject them intravenously into patients.
Gaucher is a disease that has been around for many years and nowadays
Gaucher is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids). It can have serious effects on numerous body organs including the liver, spleen, bones and central nervous system.
Gaucher disease has three common clinical subtypes. Type 1, which is the most common form of the disease. Type 2, which typically begin within 3 months of birth, and Type 3, which can begin at any time in childhood or even in adulthood. The symptoms associated with Gaucher disease differ significantly from case to case. Several individuals will develop few or no symptoms; others may have serious complications. Common symptoms include an unusually enlarged liver, low levels of red blood cells or best known as anemia, low levels of platelets, and skeletal abnormalities. Platelets are blood cells that promote clotting and patients with thrombocytopenia may develop bleeding problems. All three forms of Gaucher disease are inherited as autosomal recessive traits. Both parents must be carriers in order for a child to be affected. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who might be carriers of mutation.
Gaucher disease occurs most often among persons of Ashkenazi Jewish heritage, but people from other ethnics groups can also be affected. This disease “(Type 1) affects 1 in 100,000 of the general population” (Gaucher Disease, Gaucher 1).
The treatment for this disease is Enzyme replacement therapy (ERT) which stops and reverses the symptoms and improves quality of life of the person. This treatment method is used to replace missing enzymes. Also, with this treatment it is possible to replace enzymes and then inject them intravenously into patients.
Gaucher is a disease that has been around for many years and nowadays
Cited: “Gaucher Disease.” Genes and Disease. March 1 2006. <http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.227>. “Gaucher Disease.” Gaucher. March 1 2006. <http://www.gaucher.org.uk/>. “Gaucher 's Disease.” National Institute of Neurological Disorders and Stoke. March 1 2006. < http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm>.