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Phenylketonuria






Annual Review of Nutrition 7: 117-135

Phenylketonuria

A technical overview discusses current procedures for diagnosing and managing children with phenylketonuria (PKU), and presents the latest results from the longitudinal US National Collaborative Study of Children Treated for PKU. Attention also is given to: the definition of hyperphenylalaninemia categories; clinical presentations of PKU and its treatment; dietary restrictions; and the special consideration of maternal PKU. Practical dietary guidelines for PKU infants are included.(wz)

(PDF same-day service: $19.90)

Accession: 001653876

PMID: 3300729

DOI: 10.1146/annurev.nu.07.070187.001001



Related references

Studies on phenylketonuria. 9. Further observations on the effect of phenylalanine restricted diet on patients with phenylketonuria. Amer. J. Clin. Nutrition. 5: 543-554, 1957

Phenylketonuria: role of the dietitian in the prevention of embryopathy of infants from mothers with phenylketonuria. Journal of the Canadian Dietetic Association 56(4): 184-188, 1995

Pathogenesis of phenylketonuria: inhibition of DOPA and catecholamine synthesis in patients with phenylketonuria. Clinica Chimica Acta; International Journal of Clinical Chemistry 42(1): 235-239, 1972

Phenylketonuria. Psychometric assessment of the phenylalanine-poor diet in children with phenylketonuria. Deutsche Medizinische Wochenschrift 96(36): 1415-1423, 1971

The diagnosis of phenylketonuria: a report from the Collaborative Study of Children Treated for Phenylketonuria. American Journal of Diseases of Children 134(8): 769-774, 1980

Screening of newborn infants for phenylketonuria and trends in the therapy of patients with phenylketonuria. Orvosi Hetilap 116(42): 2485-2486, 1975

Intelligence and behaviour in children with early treated phenylketonuria. A report from the MRC/DHSS phenylketonuria register. European Journal of Clinical Nutrition 43 Suppl 1: 1-5, 1989

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Tryptophan metabolism in a patient with phenylketonuria and scleroderma: a proposed explanation of the indole defect in phenylketonuria. Canadian Medical Association Journal 94(16): 834-838, 1966

Behavior disturbance in 8 year old children with early treated phenylketonuria report from the mrc dhss phenylketonuria register. Journal of Pediatrics 112(3): 403-408, 1988