Malnutrition with Early Treatment of Phenylketonuria

Hanley, William; Linsao, L.; Davidson, William S.; Moës, C. A. F.

doi:10.1203/00006450-197007000-00002

Cited by 64 publications

(18 citation statements)

References 34 publications

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“…Too low a level leads to a deficiency syndrome which is likely to be as harmful to intellectual development as a prolonged high phenylalanine level (Umbarger el al., 1965;Rouse, 1966;Hanley et al, 1970;Hunt et al, 1971). Such a deficiency of phenylatanine leads to lethargy and refusal to eat and the patient develops a lever of undetermined origin.…”

Section: Considerations In the Dietary Treamaent Of Phenyiketonuriamentioning

confidence: 95%

Transport inhibition in the pathology of phenylketonuria and other inherited metabolic diseases

Pratt¹

1982

J of Inher Metab Disea

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Kinetic analysis of the rates of transport of amino acids and of sugars across the blood‐brain barrier shows how severe is the competition which commonly occurs between groups of chemically related substances in the blood plasma for one of a number of shared transport carriers. In view of the possible importance of such competition in causing brain damage in inherited metabolic diseases an example is given of the use of these kinetic data to work out the best way of ensuring an adequate supply of amino acids to the brain during the dietary treatment of phenylketonuria. Indications are obtained of the degree to which the supply of amino acids other than phenylalanine to the brain may be reduced and of the conditions which are likely to prove most dangerous. It is concluded that the supplementation of the diet with tyrosine alone cannot be expected to provide an effective alternative to phenylalanine restriction. The high level of phenylalanine found commonly in untreated phenylketonuria carries a risk of reducing the supply to the brain of up to eleven other amino acids which the brain cells need. A lack of any one of these may interfere with brain growth and development. The implications are considered for possible improvements in the treatment of phenylketonuria or other inherited metabolic diseases. It is concluded that there may well be some advantage in increasing the intake of amino acids other than the restricted phenylalanine which the brain has to obtain from the circulation above the amounts currently given in the treatment of phenylketonuria (or of analogous compensatory nutrition in the treatment of other metabolic defects by dietary restriction).

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Section: Considerations In the Dietary Treamaent Of Phenyiketonuriamentioning

confidence: 95%

Transport inhibition in the pathology of phenylketonuria and other inherited metabolic diseases

Pratt¹

1982

J of Inher Metab Disea

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“…In each of these cases, the authors believed that they were treating children who did in fact have some form of PKU; it is likely that some of these children had variant forms of abnormal phenylalanine metabolism. We did not identify any case reports after 1970 of adverse medical events related to identification and treatment of children with PKU, though in 1970 Hanley et al reported still having considerable difficulty in balancing the nutritional needs of the growing infant with the need to keep phenylalanine levels low [Hanley et al, 1970]. Of 32 children in whom dietary treatment for PKU was started before six months of age, six had IQs less than 75 by age five year.…”

Section: Phenylketonuriamentioning

confidence: 45%

Universal newborn screening and adverse medical outcomes: A historical note

Brosco

Seider

Dunn

2006

Ment. Retard. Dev. Disabil. Res. Rev.

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Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and genetic conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have claimed that historical examples of inadvertent harm ensuing from false-positive screening results and subsequent inappropriate medical treatment should make us wary of expanding universal newborn screening. In this essay, we report the results of a review of the published literature to assess whether the extension of screening from at risk populations to all newborns led to substantial morbidity and mortality from misguided medical treatment. We provide a historical overview of universal newborn screening programs in the United States, and then focus on six early NBS programs: congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, sickle cell disease, and maple syrup urine disease. Our comprehensive search of published sources did not reveal a widespread problem of harm ensuing from medical treatment of children with false positive screening test results.

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“…It has been difficult in our experience to achieve consistent levels this low. In fact, Hanley et al [4] in 1970 published data suggesting that very stringent control may be harmful and result in hypophenylalaninemia, growth retardation and decreased intelligence. In looking at Fig.…”

Section: Discussionmentioning

confidence: 99%

Care of the adult with phenylketonuria

et al. 1996

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Forty-three adults with classical phenylketonuria were identified by neonatal screening and treated with a phenylalanine (Phe) restricted diet. Nineteen have remained on dietary treatment with varying levels of blood Phe control and 24 have discontinued the diet at an average age of 7.8 years. Follow up at an average age of 22 years revealed that the cohort remaining on dietary treatment have achieved substantially better social and academic achievement than the 24 who discontinued dietary treatment. Another group of 19 adults who were not diagnosed until an average age of 2.5 years have also been evaluated after an average of 22 years on a Phe restricted diet. This report is based upon Wechsler Adult Intelligence Revised Test scores, attendance at college, employment and marital status.

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Malnutrition with Early Treatment of Phenylketonuria

Cited by 64 publications

References 34 publications

Transport inhibition in the pathology of phenylketonuria and other inherited metabolic diseases

Transport inhibition in the pathology of phenylketonuria and other inherited metabolic diseases

Universal newborn screening and adverse medical outcomes: A historical note

Care of the adult with phenylketonuria

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