Glucocerebrosidase preparations are administered to relieve the symptoms of Gaucher's disease, which affects some 5000 people worldwide. This is a lysosomal storage disease affecting lipid metabolism, specifically the degradation of glucocerebrosides. Glucocerebrosides are a specific class of lipid, consisting of a molecule of sphingosine, a fatty acid and a glucose molecule (Figure 12.15). They are found in many body tissues, particularly in the brain and other neural tissue, in which they are often associated with the myelin sheath of nerves. Glucocerebrosides, however, are not abundant structural components of membranes, but are mostly formed as intermediates in the synthesis and degradation of more complex glycosphingolipids. Their degradation is undertaken by specific lysosomal enzymes, particularly in cells of the reticuloendothelial system (i.e. phagocytes, which are spread throughout the body and which function as (a) a defence against microbial infection and (b) removal of worn-out blood cells from the plasma; these phagocytes are particularly prevalent in the spleen, bone marrow and liver).

Gaucher's disease is an inborn error of metabolism characterized by lack of the enzyme glu-cocerebrosidase, with consequent accumulation of glucocerebrosides, particularly in tissue-based macrophages. Clinical systems include enlargement and compromised function of these mac-rophage-containing tissues, particularly the liver and spleen, as well as damage to long bones and, sometimes, mental retardation. Administration of exogenous glucocerebrosidase as enzyme replacement therapy has been shown to reduce the main symptoms of this disease. The enzyme is normally administered by slow i.v. infusion (over a period of 2 h) once every 2 weeks.



Diabetes 2

Diabetes 2

Diabetes is a disease that affects the way your body uses food. Normally, your body converts sugars, starches and other foods into a form of sugar called glucose. Your body uses glucose for fuel. The cells receive the glucose through the bloodstream. They then use insulin a hormone made by the pancreas to absorb the glucose, convert it into energy, and either use it or store it for later use. Learn more...

Get My Free Ebook

Post a comment