Hyperphenylalaninemia is one of the commonest
inborn errors of metabolism affecting approximately 1 in 15,000 livebirths. Among Chinese,
BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for
phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among HongKong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe
6-pyruvoyl-tetrahydropterin synthase (
PTPS) deficiency. The patient presented with infantile
hypotonia and was misdiagnosed as
cerebral palsy. She had very mild hyperphenylalaninemia (95 μmol/L), significantly high phenylalnine-to-
tyrosine ratio (3.1), and elevated
prolactin of 1109 mIU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1:c.259C>T; NP_000308.1: p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to
PTPS deficiency was reported to be 1 in 29,542 live births, not a single case of
phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited
metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.