inborn errors of metabolism
Inborn errors of metabolism are genetic disorders due to single gene defects. Many inborn errors of metabolism are abnormalities of enzymes in metabolic pathways. Because this, intermediate metabolites accumulate. Some of the most well known inborn errors of metabolism are: phenylketonurea, Lesch-Nyhan Syndrome, Gaucher's disease and the glycogen storage diseases. Selected inborn errors of metabolism links:
© 1997-2006 Healthboard.com.
Healthboard.com is a purely
informational website, and should not be used as a substitute
for professional legal, medical or technical advice. |
|