This disorder of copper metabolism has been studied extensively, but a definitive treatment remains elusive. Some parts of the body don't have enough copper, while other parts accumulate too much. ... Read More

The National Institute of Allergy and Infectious Diseases (NIAID), the National Library of Medicine (NLM), and the National Center for Biotechnology Information (NCBI), all parts of the National Institutes of ... Read More

The National MPS Society (U.S.) invites children and families everywhere to learn more about mucopolysaccharidosis (MPS) and mucolipidosis disorders, including Hunter syndrome, Hurler and Scheie syndromes, Sanfilippo syndrome, Morquio syndrome, ... Read More

This inherited enzyme disorder causes progressive organ and tissue damage throughout the body. There is as yet no cure, but replacement of the deficient enzyme is being tested in clinical trials.

The techniques for modifying genetic material in the nucleus of a cell have been around for two decades. Modifying genetic material in the mitochondria of cells, though, has been an ... Read More

MELAS syndrome is a neurological disorder that worsens over time. It is caused by a defect in the genetic material in mitochondria, the energy-producing structures found in cells throughout the ... Read More

Rebeca Martinez, the child from the Dominican Republic with craniopagus parasiticus, died on Saturday, February 7, 2004, after undergoing surgery to remove the head attached to her own. The operation ... Read More

Many families affected by rare disorders know how a congenital heart defect can affect the life of a child. Some defects, such as hypoplastic left heart syndrome, are themselves rare. ... Read More

Unfortunately, there are many rare disorders that have no treatment and are not well understood. Meckel-Gruber syndrome is one. Infants with the syndrome either die in utero or shortly after ... Read More

Cystic fibrosis transmembrane conductance regulator (CFTR) is the protein that is defective in cystic fibrosis. The Dec. 26, 2003, issue of Cell describes a new enzyme activity discovered for the ... Read More

Copper and iron are metals which are essential to many body processes. Disruptions in their metabolism can lead to disorders such as Wilson's disease and Menkes disease. A research team ... Read More

An enzyme deficiency in this disorder leads to toxic build-ups of substances in the body, which destroys nerve cells and wreaks havoc on the nervous system.