A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening |
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Authors: | K -J Hsiao C -H Chen P -C Chiu S -C Huang K -D Wuu |
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Institution: | (1) Department of Medical Research, Veterans General Hospital, 11217 Taipei, Taiwan Republic of China;(2) Department of Psychiatry, Veterans General Hospital, 11217 Taipei, Taiwan Republic of China;(3) Department of Pediatrics, Veterans General Hospital, 11217 Taipei, Taiwan Republic of China;(4) Genetics Laboratory, National Yang-Ming Medical College, 11217 Taipei, Taiwan Republic of China;(5) Clinical Biochemistry Research Laboratory, Veterans General Hospital, Pei-Tou P.O. Box 2-207, 11216 Taipei, Taiwa Republic of China |
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Abstract: | A 16-year-old boy with classical phenylketonuria (PKU) and mild mental retardation (IQ 69) was detected by the screening of mentally retarded school children in Taiwan with Guthrie's bacterial inhibition assay. The follow-up family study showed that one of his married elder sisters suffered from borderline mental retardation (IQ 75) and was also diagnozed as a classical case of PKU. She had borne one boy and one girl, both suffering from mild mental retardation, microcephaly, delay in linguistic development and severe growth retardation. This is the first known Chinese family with maternal PKU. To prevent future mental retardation caused by maternal PKU, the simultaneous establishment of a register system with a neonatal screening programe, is indicated for the follow-up of PKU girls, screening of the whole family of newly discovered PKU cases, and to exclude unrecognized maternal PKU in women who have given birth to a microcephalic child.Abbreviations PKU
phenylketonuria
- WAIS
Wechsler adult intelligence scale
- CCDI
Chinese children development inventory |
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Keywords: | Hyperphenylalaninaemia Phenylketonuria Maternal PKU Screening follow-up PKU girls Family screening |
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