A genetic disorder that affects the metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including inflammation of numerous nerves (polyneuritis), diminishing vision due to retinitis pigmentosa, and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain. Refsum disease is caused by mutations in
the PAHX gene on chromosome 10 that encodes the enzyme phytanoyl-CoA hydroxylase (PAHX). Also known as phytanic acid storage disease.
To reproduce or renew something that was lost. For example, after an injury, the liver has the capacity to regenerate.
A plan or a regulated course, such as a diet, exercise, or treatment, that is designed to give a good result. A low-salt diet is one type of dietary regimen.
- Region, regulatory
A region of a chromosome that controls gene expression. In terms of DNA, it is a regulatory sequence.
- Regional enteritis
Crohn’s disease, a chronic inflammatory disease of the intestine primarily in the small and large intestines but which can occur anywhere in the digestive system between the mouth and the anus. Named after Burrill Crohn who described the disease in 1932. The disease usually affects persons in their teens or early twenties. It tends to […]
A collection of information. A registry is usually organized so that the data in it can be analyzed. For example, analysis of data in a tumor registry maintained at a hospital may show a rise in lung cancer among women.