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Phenylketonuria

The Lancet, 2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in ...
Blau, Nenad, van Spronsen, Francjan J, Levy, Harvey L   +2 more
openaire   +3 more sources

Genetics of Phenylketonuria: Heterozygosity for phenylketonuria

Nature, 1967
The first article deals with the problem of using the response to injected phenylalanine to determine whether or not the subject is heterozygous for phenylketonuria. The second article suggests a third allele on the phenylketonuria locus, the corresponding enzyme having a higher affinity for phenylalanine than has the “normal” enzyme.
W. I. Cranston, W. I. Cranston, B. L. Goodwin, L. I. Woolf   +3 more
openaire   +3 more sources

Phenylketonuria, co‐morbidity, and ageing: A review

Journal of Inherited Metabolic Disease, 2020
Phenylketonuria (PKU) is a metabolic condition which, left untreated, results in severe and irreversible brain damage. Newborn screening and the development of the low phenylalanine (Phe) diet have transformed the outcomes for people with PKU.
E. Vardy, A. Macdonald, Suzanne Ford, D. Hofman   +3 more
semanticscholar   +1 more source