Abstract
Maternal hyperphenylalaninemia constitutes a potential hazard to the fetus for whom the risks of postnatal mental retardation, microcephaly, and congenital malformations are elevated. Preconception and intragestational dietary treatment can apparently improve the outcome of such pregnancies. In the absence of predictive mechanisms for pregnancies at risk and preventive measures involving reproductive counseling and treatment, there could be a rebound in the population frequency of mental retardation related to disorders of phenylalanine metabolism in subsequent generations. We describe a program serving a population of six million that includes screening, diagnosis, treatment, and counseling of the hyperphenylalaninemias. The program has recently added a simple dedicated register for males and females with hyperphenylalaninemia to supplement traditional methods for continuous surveillance of probands. We registered 153 patients: 43 females and 56 males with phenylketonuria, 23 females and 31 males with benign hyperphenylalaninemia, of which 22, 7, 27 and 5, respectively, had reached their 12th birthday in an 1981. Regional centers in the program provided counseling about the consequences of maternal hyperphenylalaninemia and the options to prevent them. No family has rejected the principle or fact of the Register and its goals.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Clow C. L., Fraser F. C., Laberge C., Scriver C. R. On the application of knowledge to the patient with genetic disease. Prog Med Genet. 1973;9:159–213. [PubMed] [Google Scholar]
- Clow C., Scriver C. R., Davies E. Results of mass screening for hyperaminoacidemias in the newborn infant. Am J Dis Child. 1969 Jan;117(1):48–53. doi: 10.1001/archpedi.1969.02100030050005. [DOI] [PubMed] [Google Scholar]
- Emery A. E., Brough C., Crawfurd M., Harper P., Harris R., Oakshott G. A report on genetic registers. Based on the report of the Clinical Genetics Society Working Party. J Med Genet. 1978 Dec;15(6):435–442. doi: 10.1136/jmg.15.6.435. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Laberge C., Scriver C. R., Clow C. L., Dufour D. Le réseau de médecine génétique du Québec: un programme intégré de diagnostic, conseil et traitement des maladies métaboliques héréditaires. Union Med Can. 1975 Mar;104(3):428–432. [PubMed] [Google Scholar]
- Lenke R. R., Levy H. L. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med. 1980 Nov 20;303(21):1202–1208. doi: 10.1056/NEJM198011203032104. [DOI] [PubMed] [Google Scholar]
- Miller J. R. Description of a handicapped population: the British Columbia Health Surveillance Registry. Birth Defects Orig Artic Ser. 1976;12(4):1–11. [PubMed] [Google Scholar]
- Nayman R., Thomson M. E., Scriver C. R., Clow C. L. Observations on the composition of milk-substitute products for treatment of inborn errors of amino acid metabolism. Comparisons with human milk. A proposal to rationalize nutrient content of treatment products. Am J Clin Nutr. 1979 Jun;32(6):1279–1289. doi: 10.1093/ajcn/32.6.1279. [DOI] [PubMed] [Google Scholar]
- Pueschel S. M., Hum C., Andrews M. Nutritional management of the female with phenylketonuria during pregnancy. Am J Clin Nutr. 1977 Jul;30(7):1153–1161. doi: 10.1093/ajcn/30.7.1153. [DOI] [PubMed] [Google Scholar]
- Scriver C. R., Laberge C., Clow C. L., Fraser F. C. Genetics and Medicine: an evolving relationship. Science. 1978 May 26;200(4344):946–952. doi: 10.1126/science.644337. [DOI] [PubMed] [Google Scholar]
- Tice K. S., Wenz E., Jew K., Koch R. Reproductive counselling for adolescent females with phenylketonuria. J Inherit Metab Dis. 1980;3(3):105–107. doi: 10.1007/BF02312542. [DOI] [PubMed] [Google Scholar]