The spectrum of phenylalanine hydroxylase (PAH) gene mutations was determined in 25 families of hyperphenylalaninemia identified by a neonatal screening program in Taiwan. The coding sequence and exon-flanking intron sequences of PAH gene were amplified and sequenced. Mutations were identified in forty-five of the 50 chromosomes. R241C was the most common mutation (36% of the chromosomes), followed by R408Q (14% of the chromosomes). The remaining mutations were rare and seven mutations have not been reported before: p.F233L (c.697T>C), p.R252Q (c.756G>A), p.E286K (c.856G>A), p.G312V (c.935G>T), p.P314T (c.940C>A), p.I95del (c.284_286delTCA), and p.T81fsX6 (c.241_256del). Both p.R241C and p.R408Q are classified as mild phenylketonuria (PKU) or mild hyperphenylalaninemia (MHP) mutation, which may explain the fact that classical PKU is very rare in Taiwan (n=4, or one in 413,035). This strong founder effect for the p.R241C mutation has been described neither in the Caucasian populations, nor in other reports from Chinese. Since most of the populations in Taiwan are derived from Southeastern China, the spectrum of PAH gene mutations in Southeastern China should be different from other Chinese populations. This report not only disclose a specific spectrum of PAH gene mutation in Taiwan, but may also give clues to the movement of populations in Mainland China.

Our Chubby Index is an informative measurement of the facial characteristics of infants with NICCD. The chubby face features, along with an aspartate aminotransferase-to-alanine aminotransferase ratio of 2 or greater, a direct bilirubin-to-total bilirubin ratio under 0.67, and a standard deviation score for alpha-fetoprotein of 4 or greater, may serve as useful clinical indicators for diagnosing NICCD early in infancy.

With properly established cut-offs, GA1 can be successfully screened for in populations with a low incidence of the disease. Early treatment is likely to improve the outcome of cases discovered by screening.

Drawing on Brown and Levinson's (1987) politeness theory, this study investigates the communicative interaction behaviors of physicians, patients, and patients' parents in pediatrics in Taiwan. Thirty outpatients and six senior physicians from three different levels of hospital participated in the study. The analysis results indicate that most of the communicative politeness strategies used in pediatrics are bald-on-record, direct, and non-redressed. In addition, physicians adopt a higher percentage of bald-on-record and negative politeness strategies than patients. In contrast, patients' parents use more positive politeness and off-record strategies. These results indicate that while physicians display lower levels of politeness and often communicate directly, patients' parents express more supportive opinions and adopt more indirect communication strategies. The results reveal a preference for efficiency in pediatric clinics, with physicians adopting a dominant role in the communication process. These results also demonstrate an inherently asymmetric power balance between physician and patient. Our findings indicate the presence of several commonly seen politeness strategies and dialogue patterns that encourage greater self-awareness and self-observation for physicians and patients, leading to more effective communication in the clinical context. Finally, also discussed are the possible influences of Chinese culture such as face work, harmony, and power.

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