Dietary Treatment of Phenylketonuria

Article Commentary: The contributions of Louis I Woolf to the treatment, early diagnosis and understanding of phenylketonuria

“…18,23 Substitution of this preparation for protein in Sheila's diet began in December 1951, when she was 26 months old; in Woolf's words, 12 'it must have taken great courage for the doctor to give her a completely unproven diet'. Within a few months, however, 'she learnt to crawl, to stand, and to climb on chairs; her eyes became brighter; her hair grew darker; and she no longer banged her head or cried continuously'; 17 'roughness and eczema of the skin disappeared, as did the mouse-like smell', 24 and she 'began to develop good interaction with her mother and the nurses'.…”

“…13,17,18,24 20 and of subsequent improvements in 1958, 23 and in 1962 Woolf reviewed the nutritional requirements of phenylketonurics in a paper to the Nutrition Society 25 ). Bickel et al 17,24 do thank Woolf for drawing their attention to how phenylalanine could be removed from casein hydrolysate, but the early reports do so in terms that might suggest mere technical assistance, without explicit acknowledgement that Woolf had himself been attempting to have such a diet tested.…”

“…13 Bickel and coworkers appear to have had some difficulty in publishing their experience with Sheila due to their results being regarded as too speculative, 13 and indeed, a few years later a two-year-old treated by Woolf's team at Great Ormond Street completely failed to respond even to the limited extent expected for such late-started therapy. 12,23 On the other hand, many later criticisms would have been more appropriately directed, not at the diet, but at those who applied it without due caution. In his 1955 20 and 1958 23 papers, Woolf not only described in considerable detail how to prepare the diet, but also stressed both the need for careful monitoring and the possible need for the diet to be adhered to throughout life.…”

“…12,23 On the other hand, many later criticisms would have been more appropriately directed, not at the diet, but at those who applied it without due caution. In his 1955 20 and 1958 23 papers, Woolf not only described in considerable detail how to prepare the diet, but also stressed both the need for careful monitoring and the possible need for the diet to be adhered to throughout life. He later recalled that he repeatedly 'warned that some of the amino acid would have to be given [.…”

“…Dietary restriction of phenylalanine is tailored to the needs of each patient, is lifelong, and is accompanied by continual monitoring and adjustment -exactly as Woolf suggested might be necessary 50 years ago. 23 …”