Importance of Choline During Growth, with Particular Reference to Synthetic Diets in Phenylketonuria

Km, Wilson; Be, Clayton

doi:10.1136/adc.37.196.565

Cited by 19 publications

(7 citation statements)

References 30 publications

(25 reference statements)

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“…Dietary deficiencies of folic acid (Royston & Parry, 1962) and choline (Wilson & Clayton, 1962) have been reported with low phenylalanine diets. Brown & Waisman (1967) studied the siblings of probands with classical phenylketonuria and showed that retardation was not an incidental finding in phenylketonuria.…”

Section: Discussionmentioning

confidence: 99%

Phenylketonuria: a review

1970

Postgraduate Medical Journal

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Summary The development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling’s (1934) disease of phenylketonuria is not a single entity. In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by experience gained in the Phenylketonuria Clinic at the Royal Alexandra Hospital for Children in Sydney, at present attended by fifty-six children. From April 1964, fifty-six infants and children were referred because of a positive screening test. Six were no longer abnormal at the time of retesting, forty-two had classical phenylketonuria and eight showed an atypical pattern. Subsequent family studies revealed five other classical phenylketonuric children, all of whom were retarded, and one other atypical phenylketonuric boy.

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Section: Discussionmentioning

confidence: 99%

Phenylketonuria: a review

1970

Postgraduate Medical Journal

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“…Woolf [ 12 ] described a child with faltering growth and hair loss when acetyl DL tryptophan was accidentally given instead of DL tryptophan; stopping the acetyl derivative immediately reversed the symptoms. Studies in animals fed synthetic low phenylalanine diets [ 41 ] led to the addition of choline, riboflavin, folic acid, and vitamin E to the hydrolysate preparations. Two reports of folic acid deficiency were described [ 42 , 43 ], one child had megaloblastic anaemia due to folic acid deficiency exacerbated by vomiting and poor feeding and subsequently died.…”

Section: Nutritional Deficiencies With Early Protein Substitutesmentioning

confidence: 99%

Protein Substitutes in PKU; Their Historical Evolution

et al. 2021

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Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid to be removed but with the safe provision of all other amino acids necessary for maintaining normal physiological function. They were first formulated by a chemist and used experimentally on a 2-year-old girl with PKU and their nutritional formulations and design have improved over time. Since 2008, a bioactive macropeptide has been used as a base for protein substitutes in PKU, with potential benefits of improved bone and gut health, nitrogen retention, and blood phenylalanine control. In 2018, animal studies showed that physiomimic technology coating the amino acids with a polymer allows a slow release of amino acids with an improved physiological profile. History has shown that in PKU, the protein substitute’s efficacy is determined by its nutritional profile, amino acid composition, dose, timing, distribution, and an adequate energy intake. Protein substitutes are often given little importance, yet their pharmacological actions and clinical benefit are pivotal when managing PKU.

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“…Even before NBS programs, for example, Woolf noted one child in 1955 who developed seizures with restriction of protein; the child improved with a less restrictive diet [Woolf and Griffiths, 1955]. Others described rash, [Wilson and Clayton, 1962] hypoglycemia, [Dodge et al, 1959] and megaloblastic anemia [Royston and Parry, 1962] as side effects of treatment. In 1963 Holt reported the death of an infant baby due to phenylalanine restriction [Holt, 1963].…”

Section: Phenylketonuriamentioning

confidence: 99%

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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Importance of Choline During Growth, with Particular Reference to Synthetic Diets in Phenylketonuria

Cited by 19 publications

References 30 publications

Phenylketonuria: a review

Phenylketonuria: a review

Protein Substitutes in PKU; Their Historical Evolution

Universal newborn screening and adverse medical outcomes: A historical note

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