Inborn Errors of Metabolism

What can be done to prevent the disease?

The enzyme defects that lead to the inborn errors of metabolism are caused by genetic abnormalities present from the time of conception. Therefore, nothing can be done to prevent them. The diseases caused by the inborn errors, however, may be preventable in some cases:

Another way to prevent the diseases caused by the inborn errors of metabolism is family planning. A couple who know that they are both carriers of a gene responsible for an inborn error may choose to modify their family planning. They might choose not to have children at all. They also might choose to make use of one of the recent advances in assisted pregnancy or prenatal diagnosis. Genetic counseling can be very helpful.

What are the long-term effects of the disease?

Each inborn error of metabolism has its own pattern of long-term effects.

What are the risks to others?

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. People with an inborn error of metabolism pass on an abnormal gene to their children. The children will not be affected, however, unless both partners also carry a single copy or 2 copies of the gene.

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.