Basic Cooking Terms Defined. 1  Al dente: Italian term to describe pasta and rice that are cooked until tender but still firm to the bite. 2  Bain-marie: A pan of water that is used to help mixtures, such as custards, bake evenly and to protect them from the direct heat of the oven or stove.
Gaucher Disease and Heredity. Gaucher disease is an inherited, genetic disorder. People inherit two copies of every geneâone from each parent. Genes contain information about our genetic makeup, including physical characteristics such as eye color and height.All genes that an individual inherits are organized on 23 pairs of chromosomes.he genes for production of the enzyme glucocerebrosidase are passed from parent to child. In patients with Gaucher disease, two copies of the glucocerebrosidase gene that the individual inherited from his or her parents are both defective; thus, the glucocerebrosidase is unable to function normally.
Gaucher Disease is the most common of the lipid storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, which leads to a collection of fatty material in the spleen, liver, kidneys, lungs, brain, and bone marrow. It has three subtypes, with Gaucher Disease Type I being the most prevalent.nzyme replacement therapy has been developed in recent years and has been highly effective in reversing some symptoms and reducing the severity of others. Type I Gaucher is the most prevalent Jewish genetic disease, with a carrier frequency of about 1 in 15. Screening will detect approximately 95% of cariers.