Cellosaurus Disease Terminology
Cellosaurus Terminology
Phenylketonuria
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.
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.
C0031485
C81315
Cellosaurus
Disease or Syndrome
NICHD
PKU
Phenylketonuria
Phenylketonuria
Phenylketonuria
phenylketonuria
Newborn Screening Terminology
NICHD Terminology
Amino Acid Metabolism Disorder