[What should the paediatrician know about hyperphenylalaninaemia?]

Area of Science:

• Biochemistry
• Medical Genetics
• Pediatrics

Background:

• Hyperphenylalaninaemias are characterized by elevated blood phenylalanine levels (>2mg/dl).
• The primary cause is mutations in the phenylalanine hydroxylase (PAH) gene, crucial for converting phenylalanine to tyrosine.
• These conditions range from mild hyperphenylalaninaemia to classic phenylketonuria.

Purpose of the Study:

• To address common pediatric questions regarding hyperphenylalaninaemia management.
• To inform healthcare professionals about the significance of early detection and screening.

Main Methods:

• Review of hyperphenylalaninaemia classification and etiology.
• Discussion of diagnostic criteria and implications of delayed detection.
• Emphasis on the role of the Chilean National Neonatal Screening Program.

Main Results:

• Delayed detection of hyperphenylalaninaemia outside the neonatal period leads to severe intellectual disability.
• Neonatal screening programs are vital for timely diagnosis and intervention.
• The Chilean National Neonatal Screening Program has included this screening since 1992.

Conclusions:

• Early detection of hyperphenylalaninaemia through neonatal screening is critical for preventing cognitive impairment.
• Understanding the spectrum of hyperphenylalaninaemia and its genetic basis is essential for pediatricians.
• Continued implementation and awareness of neonatal screening programs are paramount for public health.