Study of phenylketonuria incidence in Thai children
Kietduriyakul, V.; Leangphibul, P.; Tongkittikul, K.
Journal of the Medical Association of Thailand 71(5): 258-261
1988
ISSN/ISBN: 0125-2208 PMID: 3397688 Document Number: 760
Phenylketonuria is an autosomal recessive mode of inheritance due to deficiency of phenylalanine hydroxylase, resulting from impaired oxidation of L-phenylalanine to tyrosine. The defect correlates with mental deficiency. The damage to the developing brain could be mitigated by modification of the diet offered to the PKU infant starting from the newborn period. The studies of phenylketonuria in mentally retarded outpatients at Rachanukul hospital, from 596 patients, aged 4 months to 24 years, one phenylketonuric patient was found. The incidence is 1.68 to 1,000 mental retarded patients or 1 to 60,000 population which is 6 times less than United States of America. The screening program of PKU in the newborn was conducted from February to October 1984 at Siriraj hospital, there were one thousand and eighty-one newborns, aged 2-5 days, consisting of 551 males and 530 females. All newborns except 11 infants were negative by Guthrie method. Questionnaires about these 11 infants were sent to the parents. The clinical features and development of the 11 newborn seemed to be normal. Prevention of mental retardation in phenylketonuria at lowest cost should be done by screening of newborn babies in phenylketonuric families and mentally retarded patients without known cause. Mentally retarded families due to PKU should be registered by the centre for the mentally retarded. Follow up of the newborn in these families should be done to control the disease.
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