Phenylalanine Hydroxylase Deficiency

Phenylalanine Hydroxylase Deficiency [PAH]: Inability to tolerate phenylalanine, commonly found in everyday foods. If not managed properly, affected individuals can display microcephaly, epilepsy, decreased skin and hair pigmentation, eczema, severe intellectual disability, and behavior problems. Management includes dietary restrictions and other treatment medications.

Ashkenazi Jewish Carrier Frequency: 1 in 255

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 18