Phenylalanine Hydroxylase Deficiency: Interlligence of Patients after Early Dietary Treatment

苯丙胺酸去氫酶缺乏症接受早期飲食治療患者之智能發展評估

簡穎秀(Yin-Hsiu Chien) ； 蔣書娟(Shu-Chuan Chiang) ； 黃愛珠(Ai-Chu Huang) ； 林京美(Jing-Meei Lin) ； 丘彥南(Yen-Nan Chiu) ； 周西平(Shi-Ping Chou) ； 王作仁(Tso-Ren Wang) ； 胡務亮(Wuh-Liang Hwu)

《Acta Paediatrica Taiwanica》 45卷6期 (2004/12) Pp. 320-323

https://doi.org/10.7097/APT.200412.0320

摘要

本文主要報告21個經由新生兒篩檢而診斷之苯丙胺酸去氫酶缺乏症患者早期治療的成果。在本研究中苯胺酸去氫酶缺乏症在台灣地區的發生率爲63,690分之一。依照初始血漿苯丙胺酸濃度可將病患分組，在21個病患中，有4人屬於典型苯酮尿症，7人爲輕型苯酮尿症，另外10人則是輕型苯丙胺酸血症。他們從出生後47±22(17-106)天大時開始使用無苯丙胺酸奶粉治療。有14人做完完整的智力評估，其中3人屬於典型苯酮尿症，5人爲輕型苯酮尿症，另外6人則是輕型苯丙胺酸血症。其平均智力爲全智商98±14(72-122)，語言智商92±8(83-112)，作業智商104±19(65-134)。苯丙胺酸去氫酶缺乏而造成的苯酮尿症在台灣地區的發生率相當低，而且是輕型的病人較多，我們的研究指出早期飲食治療確實可以使大部分患者得到正常的智力發展。

關鍵字

苯酮尿症 ； 苯丙胺酸血症 ； 苯丙胺酸去氫酶 ； 智商 ； 台灣

並列摘要

Neonatal screening for hyperphenylalaninemia (HPA) has been performed in Taiwan for more than 20 years. In this paper, we studied 21 cases of HPA caused by phenylalanine hydroxylase (PAH) deficiency. These patients were detected by a single newborn screening center over ten-years, and the incidence was one in 63,690. According to the initial plasma phenylalanine levels, four of the 21 patients belonged to classical phenylketonuria (PKU), seven were mild PKU, and ten were mild HPA. They commenced diet control at the age of 47±22 (17-106) days. Fourteen patients completed IQ tests, three of the 14 patients having classical PKU, five having mild PKU, and six having mild HPA. Their average IQ scores were within normal ranges (full-scale IQ 98±14, verbal IQ 92±8, and performance IQ 104±19), but patients with classical PKU tended to have lower IQ scores than other patients. Since classical PKU is rare in Taiwan, further studies including detailed neuropsychological tests will be required to evaluate the effect of treatment in this group of patients.

並列關鍵字

phenylketonuria ； hyperphenylalaninemia ； phenylalanine hydroxylase ； intelligence quotient ； Taiwan