Primary intestinal lymphangiectasia, also called Waldmann's disease, is a disorder that causes protein to be lost from the intestines. Waldmann's disease is usually diagnosed in children or young adults.

The U.S. Food and Drug Administration (FDA) Drug Safety Newsletter released March 18, 2008, states that serious skin reactions have been reported with the use of tumor necrosis factor (TNF)-alpha ... Read More

Rett syndrome is a genetic disorder which mainly affects the brain and nervous system. Researchers at the University of Western Australia, Perth, used data from the Australian Rett syndrome study ... Read More

In fucosidosis, an enzyme (alpha-fucosidase) is missing in the body. Without it, the body can't finish breaking down certain sugar, fat, and protein molecules into their useful parts. The partially-broken-down ... Read More

BBC News reports that a 52-year-old former schoolteacher and mother of three named Chantal Sebire has esthesioneuroblastoma (also called olfactory neuroblastoma), a rare cancer of the upper part of the ... Read More

Phenylketonuria (PKU) is an inherited metabolic disorder. In PKU the body cannot completely break down the protein phenylalanine, so it builds up in the body’s cells and causes nervous system ... Read More

The Second Symposium on Rare Anemias is being held in Nicosia, Cyprus, on March 13-14, 2008. Sponsored by ENERCA, the European Network for Rare and Congenital Anemias, the symposium will ... Read More

The U.S. National Kidney Foundation established World Kidney Day as a way of raising people's awareness of kidney disease and how important the kidneys are to your health. What is kidney ... Read More

Gene therapy is an experimental way of using genes to treat or prevent disease. Disorders that are caused by mutations in a single gene are the best candidates for gene ... Read More

Osteogenesis imperfecta, an inherited condition also known as brittle bone disease, results in fragile bones that break easily. UK researchers did prenatal transplants of human first-trimester fetal blood stem cells ... Read More

On February 27, 2008, the U.S. Food and Drug Administration (FDA) granted marketing approval to Arcalyst (rilonacept), made by Regeneron Pharmaceuticals, for the treatment of cryopyrin-associated periodic syndromes (CAPS), including ... Read More

Histidinemia is an inherited metabolic disorder in which there is a high level of histidine in the blood. Many people with histidinemia have no symptoms.