PKU

Medical abbreviation · Pediatric & Neonatal

PKU
Stands forPhenylketonuria
CategoriesMedical

PKU stands for Phenylketonuria, a pediatric & neonatal abbreviation.

Inherited metabolic disorder in which the body cannot break down the amino acid phenylalanine, which builds up and damages the brain. Newborn screening and a lifelong low-phenylalanine diet allow normal development.

Example: PKU on newborn screen, Phe 18 mg/dL; start phenylalanine-free formula, metabolic clinic follow-up.

Usage notes

Norwegian physician Asbjørn Følling described PKU in 1934, and it became the first condition screened for in newborns in the 1960s. Diet products carry the warning "Phenylketonurics: contains phenylalanine" because of aspartame. Women with PKU must control levels before and during pregnancy to prevent birth defects. Inheritance is autosomal recessive.

More pediatric & neonatal abbreviations

  • NAS – Neonatal abstinence syndrome
  • NBS – Newborn screening
  • NEC – Necrotizing enterocolitis
  • NOWS – Neonatal opioid withdrawal syndrome
  • OFC – Occipitofrontal circumference
  • PCV – Pneumococcal conjugate vaccine
  • PPHN – Persistent pulmonary hypertension of the newborn
  • PVL – Periventricular leukomalacia
  • ROP – Retinopathy of prematurity
  • RV – Rotavirus vaccine
  • SBS – Shaken baby syndrome
  • SIDS – Sudden infant death syndrome

See all 51 pediatric & neonatal abbreviations →

Edited by the AbbreviationList.com team. Spotted an error or a missing meaning? Contact us.

This entry is for general education and is not medical advice. Abbreviation use varies between institutions; always confirm in context.