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Around one in 100 people in the general US population is a carrier for type I Gaucher's disease, giving a prevalence of one in 40,000. [40] Among Ashkenazi Jews, the rate of carriers is considerably higher, at roughly one in 15. [40] Type II Gaucher's disease shows no particular preference for any ethnic group. [citation needed]
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Velaglucerase alfa, sold under the brand name Vpriv, is a medication used for the treatment of Gaucher disease Type 1. [1] It is a hydrolytic lysosomal glucocerebroside-specific enzyme, which is a recombinant form of glucocerebrosidase. It has an identical amino acid sequence to the naturally occurring enzyme. [2] It is manufactured by Shire plc.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. [1] Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome.
Imiglucerase is a medication used in the treatment of Gaucher's disease. [2] [3]It is a recombinant DNA-produced analogue of the human enzyme β-glucocerebrosidase. Cerezyme is a freeze-dried medicine containing imiglucerase, manufactured by Genzyme Corporation.
This is a shortened version of the third chapter of the ICD-9: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders. It covers ICD codes 240 to 279 . The full chapter can be found on pages 145 to 165 of Volume 1, which contains all (sub)categories of the ICD-9.
Under the proposal, the ICD-9-CM code sets would be replaced with the ICD-10-CM code sets, effective October 1, 2013. On April 17, 2012, the Department of Health and Human Services (HHS) published a proposed rule that would delay the compliance date for the ICD-10-CM and PCS by 12 months-from October 1, 2013, to October 1, 2014. [ 4 ]