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A total of 795 382 infants born in north London was screened for phenylketonuria using the Guthrie test between October 1969 and December 1978. During this period it became recognised that phenylketonuria is not a single disease entity but one that encompasses a number of disorders of differing clinical and biochemical severity. The overall incidence of persistent hyperphenylalaninaemia was of the order of 7 per 100 000 births (or 1 in 15 000) and all the early treated patients made normal developmental progress. During the study there was an appreciable fall in the incidence of uncomplicated transient hyperphenylalaninaemia with or without tyrosinaemia. This reduction coincided with the change in infant feeding practice in the UK which led to lower intakes of protein and phenylalanine. It was concluded that any infant found to have a persistent blood phenylalanine concentration of 240 mumol/1 (4 mg/100 ml) or greater should be followed closely. [ABSTRACT FROM AUTHOR]

Compares the effectiveness and acceptability of tablets containing a suitable mixture of phenylalanine-free amino acids and conventional protein substitute drinks in the management of phenylketonuria. Key issues of interest; Analysis of pertinent topics and relevant issues; Implications on acute pediatrics.

The article presents a discussion concerning the study of sapropterin treatment for phenylketonuria (PKU). It discusses that PKU patients have a reduction in serum concentration of phenylalanine on treatment with sapropterin. It notes that a cofactor of phenylalanine hydroxylase (PAH) and sapropterin dihydrochloride (6R-BH4) is tetrahydrobiopterin (BH4). Based on an international study, sapropterin treatment is beneficial for some patients. To cite, an overview of a related study is offered. The authors conclude that sapropterin treatment might allow BH4 responsive patients to have less restrictive diet without the risk of neurological consequences.