Growth and Final Height Among Children With Phenylketonuria

Pediatrics. 2017 Nov;140(5):e20170015. doi: 10.1542/peds.2017-0015.


Background and objectives: Growth is an important criterion to evaluate health in childhood and adolescence, especially in patients depending on special dietary treatment. Phenylketonuria (PKU) is the most common inherited disease of amino acid metabolism. Patients with PKU depend on a special phenylalanine-restricted diet, low in natural protein. The study aimed to evaluate growth, growth rate, and target height in 224 patients with PKU.

Methods: Retrospective, longitudinal analysis of standardized, yearly measurements of height, weight, and calculated growth rate (SD score [SDS]) of patients with PKU aged 0 to 18 years were conducted by using the national computerized CrescNet database. Inclusion was restricted to patients carried to term with a confirmed diagnosis of PKU or mild hyperphenylalaninemia determined by newborn screening and early treatment initiation.

Results: From birth to adulthood, patients with PKU were significantly shorter than healthy German children (height SDS at 18 years: -0.882 ± 0.108, P < .001). They missed their target height by 3 cm by adulthood (women: P = .02) and 5 cm (men: P = .01). In patients receiving casein hydrolysate during childhood, this was more pronounced compared with patients receiving amino acid mixtures (P < .001). Growth rate was significantly reduced during their first 2 years of life and in puberty (growth rate SDS: -1.1 to -0.5 m/year, P < .001 and -0.5; P < .02).

Conclusions: Early diagnosed, treated, and continuously monitored patients with PKU showed reduced height from birth onward. During the last 2 decades, this phenomenon attenuated, probably because of advances in PKU therapy related to protein supplements and special low-protein foods.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Body Height / physiology*
  • Body Weight / physiology
  • Child
  • Child Development / physiology*
  • Child, Preschool
  • Cohort Studies
  • Dietary Proteins / administration & dosage
  • Female
  • Germany / epidemiology
  • Humans
  • Longitudinal Studies
  • Male
  • Phenylketonurias / diagnosis*
  • Phenylketonurias / diet therapy*
  • Phenylketonurias / epidemiology
  • Retrospective Studies


  • Dietary Proteins