AB098. The mutation spectrum of the () gene in Taiwanese population
Part 4: Oral/poster

AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population

Ju-Shan Pai1, Ya-Chi Chen1, Shu-Chen Hsie1, Chia-Feng Yang1, Dau-Ming Niu1,2

1Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; 2Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan

Abstract: Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). A total of 71 PAH-deficient Taiwanese families were included for PAH gene analysis. A total 34 different mutations, including 20 missense mutations, 4 nonsense mutations, 4 deletion/insertion within structural gene, 1 deletion in enhancer region and 5 affecting splicing were identified. The most prevalent mutations in Taiwan are R241C, R408Q and Ex6- 96A4G accounting for 23.2%, 12.0% and 9.2% of the 142 mutant chromosomes, respectively. A total of 18 patients were regular follow up in our clinics and good responsive to high dose of BH4 (10 mg/kg/day). Their genotypes and phenotypes were analysis and the correlation between the proposed mutant PAH structures and functions regarding BH4 responsiveness are suggested.

Keywords: Phenylalanine hydroxylase (PAH); mutation; phenylketonuria (PKU); BH4; structure

Cite this abstract as: Pai JS, Chen YC, Hsie SC, Yang CF, Niu DM. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population. Ann Transl Med 2015;3(S2):AB098. doi: 10.3978/j.issn.2305-5839.2015.AB098

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