Treatment of classical phenylketonuria.

McBean, Michelle; Stephenson, J

doi:10.1136/adc.43.227.1

Cited by 22 publications

(12 citation statements)

References 21 publications

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“…The dietary treatment of classical phenylketonuria has been challenged in recent years (Bessman, 1966;Birch and Tizard, 1967), but the evidence in support of dietary treatment is strong (Brown and Waisman, 1967;McBean and Stephenson, 1968;Dobson et al, 1968). The management of atypical cases is equally controversial.…”

Section: Discussionmentioning

confidence: 99%

Atypical Phenylketonuria: An Approach to Diagnosis and Management

Yu¹,

Stuckey²,

O'Halloran³

1970

Archives of Disease in Childhood

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M. T. (1970.) Archives of Disease in Childhood, 45, 561. Atypical phenylketonuria: an approach to diagnosis and management. Nine children with atypical phenylketonuria are described from a Phenylketonuric Clinic of 56 children. The diagnostic criteria are (i) raised serum phenylalanine level, 4-20 mg./100 ml.; (ii) phenylalanine intolerance indistinguishable from classical phenylketonuria on loading; (iii) abnormal urinary metabolites after loading. They differ from classical phenylketonuria in their greater tolerance to dietary phenylalanine and better prognosis for future intelligence.The arguments for dietary restrictions in these infants are discussed and their dietary management outlined. Their greater tolerance to phenylalanine results in an increased danger of phenylalanine deficiency. This requires closer supervision in the first months of treatment. It is speculated that dietary restrictions will be eased by pre-school age, but that females with atypical phenylketonuria will again require dietary restrictions when pregnant.

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Section: Discussionmentioning

confidence: 99%

Atypical Phenylketonuria: An Approach to Diagnosis and Management

Yu¹,

Stuckey²,

O'Halloran³

1970

Archives of Disease in Childhood

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“…Dietary management of classical phenylketonuria The management of phenylketonuria by a low dietary phenylalanine intake was first reported by Bickel, Garrard & Hickman (1953). Since that time, dietary restrictions have been used widely by clinicians in all parts of the world with encouraging results (Medical Research Council, 1963;McBean & Stephenson, 1968;Dobson et al, 1968;Brown & Waisman, 1967). Bessman in 1966 questioned many aspects of phenylketonuria, including the efficacy of treatment and the ethics of mass screening surveys.…”

Section: Discussionmentioning

confidence: 99%

“…Most workers prefer their treated children to have levels less than 10-12 mg/100 ml (Baumeister, 1967;McBean & Stephenson, 1968). The management of atypical cases varies markedly.…”

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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“…Little attention Many favorable reports have been published on the has been paid to the hazards of feeding a synthetic low value of a low phenylalanine diet in the treatment of phenylalanine diet to young infants although at least phenylketonuria (PKU) [2,3,8,15,20,34,38,39,41]. seven deaths [6,21,23,24,31,48,53] associated with, The enthusiasm of early workers has been tempered but not necessarily caused by, such diets have been by more critical assessment of long-term results [5-7, reported.…”

Section: Introductionmentioning

confidence: 99%

“…A number of authors admit that weight gain and linear growth of their treated patients has been retarded [1,6,13,35,41,57], while others state that these indices have been maintained within the normal range [7,8,32,61]. Though it has been reported that untreated patients with phenylketonuria are small in stature [27,36,45], no data have been presented to support this claim and others have even challenged this statement [26,56].…”

Section: Introductionmentioning

confidence: 99%

Malnutrition with Early Treatment of Phenylketonuria

et al. 1970

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ExtractThirty-two children with phenylketonuria in whom dietary therapy was started prior to 6 months of age are reviewed. Evidence of profound malnutrition during year 1 of life, demonstrated by deficient growth, anemia, hypoproteinemia, roentgenographic bone changes, and various clinical symptoms, was found in three patients. In two of these patients, the malnutrition was quickly corrected; present intelligence levels in these patients are dull normal. The third patient, however, suffered prolonged malnutrition and the present IQ,is only 50. Signs of less severe but prolonged malnutrition were found in 16 patients with phenylketonuria despite apparently adequate diets and adequate levels of phenylalanine in serum. Three of these are retarded, five are borderline, six are in the dull normal intelligence range, and two are normal.In 13 recently diagnosed cases of phenylketonuria, more liberal amounts of phenylalanine and protein were given that resulted in moderate elevation of phenylalanine levels in serum. No evidence of malnutrition was found in these children and present IQ_ tests showed that none was testing retarded or borderline; four were rated as dull normal and nine were normal. Speculation

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Treatment of classical phenylketonuria.

Cited by 22 publications

References 21 publications

Atypical Phenylketonuria: An Approach to Diagnosis and Management

Atypical Phenylketonuria: An Approach to Diagnosis and Management

Phenylketonuria: a review

Malnutrition with Early Treatment of Phenylketonuria

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