Atypical Phenylketonuria With Borderline or Normal Intelligence

Hsia, David Yi‐Yung; O'Flynn, Margaret E.; Berman, Julian L.

doi:10.1001/archpedi.1968.02100020145005

Cited by 24 publications

(15 citation statements)

References 44 publications

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“…These infants have elevated serum phenylalanine levels of 4-20 mg per 100 ml, but the levels are not as high as those reached in classical phenylketonuria (Hsia, O'Flynn & Berman, 1968). On a normal diet, phenylpyruvic acid and orthohydroxyphenylacetic acid appear intermittently in the urine, but they nearly always appear with phenylalanine loading.…”

Section: Discussionmentioning

confidence: 85%

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: 85%

Phenylketonuria: a review

1970

Postgraduate Medical Journal

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“…Case 1, however, had a very high phenylalanine concentration in the blood, more than 50 mg/100 ml on 5 consecutive days. Thus this case must be classified as 'classical phenylketonuria' according to the principles of H sia [13]. This diagnosis does not necessary imply that the boy would have become mentally defective if no treatment were given.…”

Section: Discussionmentioning

confidence: 99%

Whey Protein Formulas in the Treatment of Phenylketonuria in Infants

Hambræus¹,

Wranne²,

Lorentsson³

1970

Ann Nutr Metab

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The use of a whey protein formula as natural protein source in the dietary treatment of two infants with phenylketonuria is described. Two practical advantages were found. Firstly, the whey protein formula had the same caloric and nitrogen content as the special low-phenylalanine formula, which made adjustments of the intake of these two formulas in order to balance the phenylalanine intake easy. Secondly, since the whey protein formulas had a lesser phenylalanine content than whole milk protein, which is usually used as a natural protein source in the treatment of phenylketonurics at this age, a greater part of the infant’s daily feed could be a whey protein formula and a minor part the expensive phenylalanine-poor formula.

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“…Gross disruption of related amino acids and metabolites does not occur until the phenylalanine levels in serum are over 12-15 mg/100 ml. Many of the untreated phenylketonurics with a high IQ, have relatively low phenylalanine levels [33] and a number of these individuals have given birth to normal children.…”

Section: Discussionmentioning

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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Atypical Phenylketonuria With Borderline or Normal Intelligence

Cited by 24 publications

References 44 publications

Phenylketonuria: a review

Phenylketonuria: a review

Whey Protein Formulas in the Treatment of Phenylketonuria in Infants

Malnutrition with Early Treatment of Phenylketonuria

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