What is PKU?
An amino acid metabolic disorder.
Symptoms
Growth delay and intellectual disability without early treatment.
Genetic causes
PAH gene mutations.
Inheritance pattern
Autosomal recessive.
Important genes
PAH.
Who should be tested?
Neonates via screening and affected families.
Recommended tests
PAH sequencing and carrier screening.
Counseling
PGT-M for carrier couples.