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CAH is a genetic defect of the adrenal glands. A person with CAH will not be able to produce several vital hormones known as corticosteriods. CAH is treated with hormone replacement, replacing one or both of the hormones missing, generally with Cortef and Florinef. Living with CAH requires extra attention to common illnesses and stress inducing situations (injury, exercise, etc.) and very good communication with your Endocrinologist. While this site is intended to provide information, support and education for people and families with CAH, your Endocrinologist must always be your primary source for medical information, and should always be consulted regarding any medical questions.
PKU (phenylketonuria), in its "classic" form, is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. When a very strict diet is begun early and well-maintained, effected children can expect normal development and a normal life span. (Not all elevations of blood phenylalanine require treatment; any child with a level less than 6 mg/dl does not need to be on a special diet and is not risk for mental retardation.)