CURRENT PRACTICE Current Status of PKU Diagnosis and Treatment

By the early 1970's the management of PKU seemed to be satisfactory early neonatal diagnosis was working well and results of dietary treatment were very good. The timing and effects of cessation of diet remained points of debate and minor differences of opinion existed regarding the levels of serum phenylalanine -equiring dietary treatment and the optimal serum phenylalanine level during treatment. The practical management of pregnancy in women with successfully treated PKU was seen as a problem to be faced in the future, but faced with some optimism hoping that dietary treatment would protect the foetus. Late in 1974 and early in 1975 a chill wind blew from London, Heidelberg, Bethesda and Melbourne in the form of reports of children with PKU who had died at 2 to 5 years of age after suffering progressive cerebral degeneration despite early diagnosis and good biochemical control. Research in these centres and in Birmingham, Paris and Zurich, has now defined this problem to a degree which allows clear practical advice to be formulated. Knowledge available in 1977 has been summarised (Danks eta/., 1 9 7 8 ) and only key subsequent articles are quoted.