SF Logo

Metabolic Disorders


Metabolic disorders are caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. Inherited metabolic disorders are caused by a defect in a single gene. There are many inborn errors of metabolism. Some produce relatively unimportant physical features or skeletal abnormalities. Others produce serious disease and even death. Some of the more familiar inborn errors of metabolism are cystic fibrosis, hypothyroidism, sickle cell anemia, phenylketonuria (PKU) and Tay-Sachs disease.

Who is at Risk?

Inborn errors of metabolism affect about 1 in every 5,000 babies born. Parents who have had one child with an inborn error of metabolism are at risk to have other affected children. One in 4 pregnancies of such couples is expected to result in an affected child. Some inborn errors of metabolism are more often found in certain racial and ethnic groups. Sickle cell anemia, for example, is found among those of African descent. Those of European heritage are more likely to pass on defective genes for cystic fibrosis. The children of women with some inborn errors of metabolism are at risk because of an unfavorable environment in the womb.

Sources: Health On the Net Foundation, Patient Marketing Group, Inc.

Recent Metabolic Disorder Research and News at The Scripps Research Institute

donate now