Rare Diseases Symptoms Automatic Extraction

New insights in growth of phenylketonuric patients.

[phenylketonuria]

Treatment of phenylketonuria involves a restriction in the intake of natural proteins. This can lead to growth impairment. Weight, height and body mass index of 109 hyperphenylalaninemic patients (mild hyperphenylalaninemia (HPA) and phenylketonuria (PKU)) were determined from birth until 18 years, every 6 months, and differences to the healthy population, depending on the age, sex and phenotype, were analyzed. Data collection was longitudinal retrospective during 31 years. Statistical analysis of z-score values was performed by advanced statistical tools. Long-term evolution of anthropometric z-scores showed no significant statistical differences between PKU and mild HPA individuals, according to the general population. For PKU individuals, height is slightly lower and weight slightly higher than in the healthy population, but differences are smaller than one standard deviation. Nevertheless, over-time evolutions of female height z-scores are different in each type of pathology, with a crossover between 8 and 12 years (p = 0.0186). Conclusions: It is nowadays possible to achieve a long-term normal growth in PKU patients with appropriate dietary treatment. There is however an acceleration of growth up to 8 years old for PKU female patients that leads to a slightly lower final height. Detection of this behaviour was possible by using nonlinear mixed effects models.

Diseases presenting "hyperphenylalaninemia" symptom

  • classical phenylketonuria
  • homocystinuria without methylmalonic aciduria
  • phenylketonuria

This symptom has already been validated