Biochemical genetics involves diagnosing and treating metabolic diseases. These are problems with how the body makes, breaks down or uses proteins, fats or carbohydrates. They are caused by genes that are not normal and cannot make the enzymes the body needs. (Enzymes are found in the blood, organs, saliva and other parts of the body. They are important to all bodily functions.)
These diseases are called inborn errors of metabolism. Our team helps to diagnose, monitor and manage these diseases. We work closely with doctors in other departments at Seattle Children’s and in our Genetics Lab. Most of our patients have complex health problems. They need coordinated, long-term care from a team of experts, like ours.
Diagnosing and treating metabolic diseases early can improve a child’s quality of life. The Washington State Department of Health screens newborns for these diseases. We work with them to provide any follow-up genetic testing and care that newborns need.
Our program is part of the American Board of Medical Genetics–certified training program at the University of Washington. Another name for this area of genetics is metabolic genetics.