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Hyperphenylalaninemia is one of the commonest inb errors of metabolism affecting approximately 1 in 15 000 live births. 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, newb screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newb screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among Hong Kong 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 mlU/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 clue 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 newb screening for hyperphenylalaninemia should be implemented for every baby b in the Hong Kong Special Administrative Region, China.