Article
Genetic analysis of treated and untreated phenylketonuria in one family.
Journal of medical genetics - 1 Sept 1990
Tyfield L A, Meredith A L, Osborn M J, Primavesi R, Chambers T L, Holton J B, Harper P S
Abstract excerpt
We describe a family in which four subjects in two generations have a disorder of phenylalanine metabolism. Two first cousins had different biochemical presentations in the neonatal period. The older child was thought to have a more severe form of phenylketonuria (PKU), and the younger child a milder form. While carrying out family studies we discovered that their mutual grandfather and his older unmarried...
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