Genetic & Metabolic Disorders
A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes). Some genetic diseases are caused by mutations that are inherited from the parents and are present in an individual at birth while other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life.
Metabolic and endocrine diseases include a wide range of conditions that affect many millions of Americans and can impact quality of life. The endocrine (or hormone) system affects growth and development, metabolism, sexual function, and mood. If your hormone levels are too high or too low, you may have a metabolic or endocrine disease or disorder.
Receiving a diagnosis of a genetic or metabolic disorder can feel overwhelming, but learning more about the diagnosis can help you navigate treatment and care. Please explore the various types of disorders found on the menu to the left to learn more about how they are diagnosed and treated.