Can newborn blood testing on day three detect phenylketonuria?
Mar 12, 2025
Source: Cainiu Health
Dr. Zhou Xiaofeng
Introduction
The screening for phenylketonuria (PKU) in newborns is typically conducted between 72 hours and 7 days after birth, through the collection of heel prick blood for testing. This examination enables early detection of PKU in newborns, allowing timely and effective treatment measures to be taken, thereby preventing irreversible damage to the infant's intellectual and physical development caused by the disease.
Generally, phenylketonuria (PKU) in newborns can be detected through blood tests conducted three days after birth. Detailed analysis is as follows:
Screening for PKU in newborns is usually performed between 72 hours and 7 days after birth by collecting blood from the heel. This test can detect whether a newborn has PKU at an early stage, allowing timely and effective treatment to prevent irreversible damage to the infant's intellectual and physical development caused by the disease.
Phenylketonuria is a genetic disorder caused by the deficiency or reduced activity of phenylalanine hydroxylase in the liver, which leads to impaired phenylalanine metabolism. Clinical manifestations of the disease include intellectual disability, neurological and psychiatric symptoms, eczema, pigment loss, and a musty odor in the urine. If the disease is detected and diagnosed early during the neonatal period, the infant's health can be improved and further progression of the disease can be prevented through dietary control of phenylalanine intake, use of specially formulated milk powders or foods, necessary medication, and regular monitoring.
Parents should actively cooperate with the screening procedures recommended by doctors to ensure timely examination and treatment for the newborn. If screening results are abnormal, parents should follow medical advice to perform further diagnostic tests and treatment, to ensure the baby's healthy growth.
