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  4. Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
 
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Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment

Journal
Acta Paediatrica Taiwanica
Journal Volume
45
Journal Issue
6
Pages
320-323
Date Issued
2004
Author(s)
YIN-HSIU CHIEN  
Chiang S.-C.
Huang A.
Lin J.-M.
YEN-NAN CHIU  
Chou S.-P.
Wang T.-R.
WUH-LIANG HWU  
URI
https://www.scopus.com/inward/record.uri?eid=2-s2.0-17044413701&partnerID=40&md5=f25b82b5e7238f9a7dc9c25e641139c6
https://scholars.lib.ntu.edu.tw/handle/123456789/526026
Abstract
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.
SDGs

[SDGs]SDG3

Other Subjects
phenylalanine; phenylalanine 4 monooxygenase; aptitude test; article; child; clinical article; diet therapy; dietary intake; disease severity; female; human; hyperphenylalaninemia; incidence; intelligence; intelligence quotient; male; newborn screening; phenylketonuria; scoring system; Taiwan; Age Factors; Child; Child, Preschool; Hospitals; Humans; Infant; Infant, Newborn; Intelligence; Intelligence Tests; Phenylketonurias; Taiwan; Time Factors; Treatment Outcome
Type
journal article

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