If untreated, PKU results in severe neurological and developmental damage. Treatment consists of a special diet low in phenylalanine. Affected infants develop normally with proper dietary control. If untreated, CH results in severe neurological and developmental damage. Treatment consists of replacement of hormone with synthetic thyroxine.
Affected infants develop normally with proper treatment.
If untreated, CAH can lead to an imbalance in the body's concentration of salts which in turn can rapidly lead to shock and death. CAH also causes excessive masculinization and extremely premature sexual maturation. Treatment consists of providing cortisol which normalizes hormone production. Proper treatment prevents death and stops the masculinization process. Affected females may require surgical correction of masculinized genitalia.