The province of Quebec screens for autosomal recessive phenylketonuria (PKU) and other forms of hyperphenylalaninemia due to phenylalanine hydroxylase deficiency and tetrahydrobiopterin variants in newborns. A review of the annual reports of the Quebec Newborn Screening Program and of the clinical files of individuals with hyperphenylalaninemia born in Quebec since 1970 was undertaken. The Newborn Screening Program was evaluated for its ability to detect and identify individuals with hyperphenylalaninemia, to characterize their phenotype, and to continue surveillance. Less than universal participation in the screening (98.6%) and loss to follow-up of individuals not on treatment are causes for concern in the context of maternal hyperphenylalaninemia. Characteristics of individuals with PKU or non-PKU HPA including ethnicity, age at screening test, administrative region of birth, and month of birth were analyzed.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.55505 |
| Date | January 1994 |
| Creators | Lambert, Deborah M. |
| Contributors | Morgan, Kenneth (advisor) |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Department of Epidemiology and Biostatistics.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 001426080, proquestno: AAIMM00032, Theses scanned by UMI/ProQuest. |
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