Growth assessment in children with phenylketonuria

Area of Science:

• Biochemistry
• Pediatrics
• Genetics

Background:

• Phenylketonuria (PKU) is a rare genetic disorder requiring lifelong dietary management.
• Early diagnosis through newborn screening is crucial for timely intervention.
• Dietary phenylalanine restriction is the cornerstone of PKU management to prevent neurological damage.

Purpose of the Study:

• To evaluate the growth parameters of children diagnosed with phenylketonuria.
• To assess the impact of phenylalanine-restricted diet adherence on physical development.
• To compare growth outcomes between well-controlled and poorly-controlled PKU groups.

Main Methods:

• A cohort of 39 children with PKU diagnosed via newborn screening was studied.
• Data collected included phenylalanine levels, diet compliance, and anthropometric measurements over 3 years.
• Children were categorized into well-controlled (phenylalanine < 360 μmol/L) and poorly-controlled (phenylalanine > 600 μmol/L) groups.

Main Results:

• The well-controlled PKU group demonstrated significantly higher height and weight Z-scores from 3 months onwards compared to the poorly-controlled group.
• While initial height Z-scores were higher at birth in the poorly-controlled group, the well-controlled group showed sustained better growth.
• Both groups maintained height and weight Z-scores within the normal range by 36 months of age.

Conclusions:

• Good dietary control in children with phenylketonuria leads to improved growth parameters.
• Despite differences, both well-controlled and poorly-controlled groups exhibited generally adequate physical development.
• Adherence to a phenylalanine-restricted diet is vital for optimizing physical development in PKU patients.