Eyes, bones, heart, and blood vessels are typically involved. The inheritance is autosomal dominant. Inheritance is autosomal dominant and the condition is variable in severity. Incidence is about 1 in 3,000 to 1 in 3,500. If untreated, the phenylalanine accumulates in the blood causing mental retardation and seizures.
Inheritance is autosomal recessive.
An inherited blood disease more common in those of African, African American or Mediterranean ancestry. Inheritance is autosomal recessive. A progressive, inherited disease of the nervous system more commonly found in individuals of Eastern European Jewish and French-Canadian ancestry. Individuals who are affected are unable to break down a particular fat within the cells of the brain. As the fat builds up, damage to cells of the brain occur in the first year of life and the condition is usually fatal in early childhood.