Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.

Abstract excerpt

Up to 10% of newborn children with a positive Guthrie test have non-phenylketonuria hyperphenylalaninaemia, i.e., mild elevation of serum phenylalanine that does not require dietary treatment. Depending on the relative frequencies of different phenylalanine hydroxylase mutations in a particular population, non-PKU HPA is usually caused by the combined effect of a mild HPA mutation and a severe PKU mutation....

Topics

• Adolescent
• Amino Acid Metabolism, Inborn Errors
• Base Sequence
• Child
• Child, Preschool
• Genetic Carrier Screening
• Humans
• Infant
• Infant, Newborn
• Ireland
• Liver