Table of Contents

HK J Paediatr (New Series)
Vol 17. No. 3, 2012

HK J Paediatr (New Series) 2012;17:143-147

Original Article

Pitfalls in the Management of Phenylketonuria in China

lL Yang, HQ Mao, WF Zhang, ZY Zhao, RL Yang, XL Zhou, XL Huang, XW Huang


To review the cognitive outcome of phenylketonuria (PKU) patients who were diagnosed through the newborn screening program. The management and treatment procedures were also evaluated. All PKU files during the period from January 1999 to September 2010 were reviewed and evaluated. The demographic information of the patients, results of average phenylalanine (Phe) concentration in the first three years, Phe concentration at the most recent clinic visit and neuropsychological assessment were recorded in detail. A total of 3,791,538 newborns had been screened for PKU in our centre. PKU was diagnosed in 147 children after newborn screening with an incidence of 1/25,600. After diagnosis, 24 children were refused to be treated by their parents. Four children were discontinued treatment after a period by their parents and nine were lost during the follow-up. Only 96 children have been followed up and treated at our centre until now. Neuropsychological assessments were only done in 55 patients, 11 of whom had mental retardation. The outcome of the children with delayed diagnosis and treatment was poor. Non-compliance to the treatment was common in PKU patients. Urgent measures have to be done to improve the screening strategies. Future study should focus on investigating the possible factors resulting in poor or suboptimal compliance, so as to improve the outcome of the PKU children.

Keyword : Management; Mental retardation; Phenylketonuria

Abstract in Chinese


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