Article
Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene.
Journal of intellectual disability research : JIDR - 1 Feb 2003
Gizewska M, Cabalska B, Cyrytowski L, Nowacki P, Zekanowski C, Walczak M, Jóźwiak I, Koziarska D
Abstract excerpt
Although the clinical heterogeneity of phenylketonuria (PKU) is well established, some questions about this condition remain. Subjects from the same family who share the same mutations in the phenylalanine hydroxylase (PAH) gene are expected to display similar disease courses, and therefore, when blood phenylalanine (Phe) levels, genotype and dietary treatment are all similar, differences in patient outcomes...
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