Tryptophan Metabolism in Phenylketonurics

Reichle, Frederick A.; Baldridge, Robert C.; Dobbs, June M.; Trompetter, Marianne

doi:10.1001/jama.1961.73040480023018

Cited by 13 publications

(3 citation statements)

References 8 publications

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“…The undoubted response of this patient's epilepsy to corticotrophin is shown by the steady reduction in the amount of chaotic and epileptic activity in the first three EEG records, as well as by the reduction in the number and severity of the spasms. In untreated phenylketonuria the plasma 5-hydroxytryptamine has been found to be low in some cases (Pare et al 1957, Reichle et al 1961). Yet after two weeks' treatment, when there had been a substantial improvement in his epilepsy, EEG, and mental level, the boy's plasma phenylalanine was very high.…”

Section: Discussionmentioning

confidence: 99%

“…The improvement was as rapid as in any of the patients we have seen with infantile spasms of varying causation who were treated with corticotrophin or steroids. These workers also showed a diminished ability of such patients to decarboxylate 5-hydroxytryptophan to yield 5-hydroxytryptamine (Pare et al 1958, Reichle et a/. We do not know the level before the drug was started, but the two-week value is so high that the improvement can hardIy have been due to a reduction in bloodlevel.…”

Section: Discussionmentioning

confidence: 99%

“…1959, Bower 1961. In untreated phenylketonuria the plasma 5-hydroxytryptamine has been found to be low in some cases (Pare et al 1957, Reichle et al 1961). These workers also showed a diminished ability of such patients to decarboxylate 5-hydroxytryptophan to yield 5-hydroxytryptamine (Pare et al 1958, Reichle et a/.…”

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%