Cellosaurus Disease Terminology Phenylketonuria NICHD C0031485 phenylketonuria Cellosaurus PKU C81315 Phenylketonuria Phenylketonuria An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine. An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays. Phenylketonuria Disease or Syndrome Persistent hyperphenylalaninemia Newborn Screening Terminology NICHD Terminology Amino Acid Metabolism Disorder