INHERITED METABOLIC DISORDERS.
INDIVIDUALLY RARE, COLLECTIVELY NUMEROUS.
Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects - most commonly inherited from both parents - that interfere with the body's metabolism, the process of converting food to energy on a cellular level via special enzymes that help break it down.
In most inherited metabolic disorders, a single enzyme is either not produced by the body at all or is produced in a form that does not work. Depending on that enzyme's role, its absence means toxic chemicals may build up, causing, if not managed, a wide array of symptoms such as delays in physical and mental development, or an essential product may not be produced.
Each inherited metabolic disorder is quite rare in the general population. Considered all together, inherited metabolic disorders may affect about 1 in 1'000 to 2'500 newborns.