Nutrition in relation to phenylketonuria

Woolf, L. I.

doi:10.1079/pns19620006

Cited by 19 publications

(10 citation statements)

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“…The onset of infantile spasms with coincident mental regression in a previously normal infant is now a clinical entity familiar to paediatricians (Illingworth 1955, Bower andJeavons 1959). Indeed, since about a quarter or more of infants with phenylketonuria have epileptic attacks (Woolf 1962), the association might be expected to occur more frequently than it does. That children with phenylketonuria may have infantile spasms is known (Low et al 1957, Partington 1961.…”

Section: Discussionmentioning

confidence: 99%

“…Indeed, since about a quarter or more of infants with phenylketonuria have epileptic attacks (Woolf 1962), the association might be expected to occur more frequently than it does. There is evidence that cerebral myelination is defective in phenylketonuria (Poser and van Bogaert 1959, Crome andPare 1960, Crome, Tymms andWoolf 1962). There were 3 cases in the 698 children with minor motor seizures reported by Livingston et al (1958), and only one case in the 61 children with infantile spasms reported by Millichap el al.…”

Section: Discussionmentioning

confidence: 99%

“…That children with phenylketonuria may have infantile spasms is known (Low et al 1957, Partington 1961. Indeed, since about a quarter or more of infants with phenylketonuria have epileptic attacks (Woolf 1962), the association might be expected to occur more frequently than it does. This is the only case we have seen in 146 children with infantile spasms.…”

Section: Discussionmentioning

confidence: 99%

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Phenylketonuria Presenting as Infantile Spasms with Sudden Mental Deterioration

Bower

Jeavons

1963

Develop Med Child Neuro

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SUMMARY A child with phenylyketonuria had a well‐documented history of normal mental development until the age of 7 months, when there was a sudden onset of infantile spasms with coincident mental regression. He was treated at first with corticotrophin, with improvement in the epilepsy, EEG appearance and mental level. After two weeks the diagnosis of phenylketonuria was made and a low‐phenylalanine diet started. His subsequent progress over the next 3 1/2 years is described. The method of presentation, the effect of corticotrophin and the mental level achieved are discussed. Réasuméea Phénylacétonurie se présentant sous forme de spasmes infantiles accompagnés de détérioration mentale soudaine Un enfant atteint de phénylacétonurie a eu une histoire bien documentée de développement mental normal jusquà l'âge de 7 mois, époque à laquelle apparurent soudain des spasmes infantiles accompagnés de régression mentale. L'enfant fut traité d'abord par la corticotrophine qui améliora l'épilepsie, l'apparence de l'EEG et le niveau mental. La phénylacétonurie fut diagnostiquée après deux semaines et un régime pauvre en phénylalanine fut commencé. Les auteurs décrivent les progrès obtenus au cours des 3 années et demie suivantes. La méthode de présentation, l'action de la corticotrophine et le niveau mental atteint sont discutés. Zusammenfassung Ein Kind mit Phenylketonurie hatte eine gut dokumentierte Vorgeschichte von normaler geistiger Entwicklung bis zum 7. Lebensmonat. Zu dieser Zeit traten plötzlich Kramp‐fanfälle auf, die von gleichzeitiger geistiger Regression begleitet waren. Es wurde erstmals eine Behandlung mit Corticotrophin unternommen, die die Epilepsie, das EEG und den Geisteszustand günstig beeinflusste. Nach zwei weiteren Wochen wurde Phenylketonurie festgestellt und eine Diet mit niedrigem Phenylalanin‐Enthalt verabreicht. Das darauf folgende Befinden während der nächsten 3 1/2 Jahre wird beschrieben. Es erfolgt ein Bericht über die Behandlungsweise und die Ergebnisse der Corticotrophin‐Therapie im Bezug auf Geisteszustand.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Phenylketonuria Presenting as Infantile Spasms with Sudden Mental Deterioration

Bower

Jeavons

1963

Develop Med Child Neuro

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“…This prediction has been amply confirmed; if a diet low in phenylalanine is given from early infancy, the child develops normal intelligence and shows no neurological abnormalities; if started later in childhood the low-phenylalanine diet frequently causes an improvement in intelligence and behaviour and a change in the EEG towards the normal, with fewer fits (for review see Knox 1960, Woolf 1962.…”

Section: Galactosemiamentioning

confidence: 99%

Inborn errors of metabolism

Sawley

1998

Paediatric Nursing

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“…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.…”

Section: The Dietary Treatment Of Pkumentioning

confidence: 99%

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

Fernández

Colón

2009

J Med Screen

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Early diagnosis of phenylketonuria (PKU) became a goal worth pursuing following demonstration of the efficacy of the dietary treatment conceived by Louis I Woolf. This paper narrates the history of this treatment, describes Woolf's role in the establishment of neonatal PKU screening and surveys his other contributions to our understanding of this condition. If Woolf, Centerwall, Baird and Berry had waited until all the scientific evidence about PKU that is now at our disposal had been brought to light, there would still be no neonatal screening programmes.

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Nutrition in relation to phenylketonuria

Cited by 19 publications

References 20 publications

Phenylketonuria Presenting as Infantile Spasms with Sudden Mental Deterioration

Phenylketonuria Presenting as Infantile Spasms with Sudden Mental Deterioration

Inborn errors of metabolism

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

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