Phenylketonuria: a review

Abstract

Summary The development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling’s (1934) disease of phenylketonuria is not a single entity. In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by experience gained in the Phenylketonuria Clinic at the Royal Alexandra Hospital for Children in Sydney, at present attended by fifty-six children. From April 1964, fifty-six infants and children were referred because of a positive screening test. Six were no longer abnormal at the time of retesting, forty-two had classical phenylketonuria and eight showed an atypical pattern. Subsequent family studies revealed five other classical phenylketonuric children, all of whom were retarded, and one other atypical phenylketonuric boy.

Experimental maternal hyperphenylalaninemia: Biochemical effects and offspring development

“…An untreated phenylketonuric (PKU) woman usually bears offspring who exhibit retarded mentality (Yu, 1970) and growth along with other malformations. These conditions may result from exposure of the fetus to elevated plasma phenylalanine (Phe) levels during gestation.…”

Exploring the links between the ZDHHC9 gene and intellectual disability

“…Phenylketonuria (PKU) is a genetic disorder characterised by urinary excretion of phenylpyruvic acid (Meister, 1958) and is caused by decreased metabolism of the amino acid phenylalanine (Goldstein, 1961). Untreated PKU can lead to intellectual disability, seizures and behavioural problems (Yu, 1970).…”

“…PKU is a genetic disorder characterised by urinary excretion of phenylpyruvic acid (Meister, 1958) and 4-Hydroxyphenylpyruvic acid (Chalmers & Watts, 1974). Untreated PKU can lead to intellectual disability, seizures and behavioural problems (Yu, 1970). Two main pathways emerged as significantly dysregulated in KO mice: the pathway of tryptophan metabolism and of phenylalanine, tyrosine and tryptophan biosynthesis with Phenylpyruvic and 4-Hydroxyphenylpyruvic acid being highly increased in Zdhhc9 KO mice.…”