Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test

Blitzer, Miriam G.; Bailey-Wilson, Joan E.; Shapira, Emmanuel

doi:10.1016/0009-8981(85)90164-0

Cited by 7 publications

(3 citation statements)

References 12 publications

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“…Measurement of phenylalanine hydroxylase activity in liver has allowed discrimination of some phenotypes (3)(4)(5), but the invasiveness of liver biopsy precludes the technique from routine use. Consequently, a number of in vivo methods have been investigated (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). These techniques have, in general, attempted to assess the ability to clear phenylalanine from plasma or to hydroxylate it to tyrosine.…”

Section: Introductionmentioning

confidence: 99%

“…These techniques have, in general, attempted to assess the ability to clear phenylalanine from plasma or to hydroxylate it to tyrosine. A number of studies have examined the response in plasma phenylalanine and/or tyrosine following an oral or intravenous load of phenylalanine (8,11,12,(16)(17)(18), but these tests fail to discriminate between normal and heterozygote subjects in a substantial number of cases. Better discrimination has more recently been obtained by various deuterated phenylalanine loading techniques (7,13,19).…”

Section: Introductionmentioning

confidence: 99%

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Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.

Thompson¹,

Halliday²

1990

J. Clin. Invest.

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;tmol/kg per h (range 0.9-8.4) of phenylalanine to tyrosine and those with HPA 4.4 and 5.3, respectively. These rates were substantial in comparison with those in controls (6.3±1.6, 3.2-8.2). The significant hydroxylation in PKU and HPA subjects is likely to result from induction of activity of tyrosine hydroxylase towards phenylalanine by the greatly elevated phenylalanine concentration. The presence of such activity in PKU suggests that therapy aimed at promotion of this usually latent hydroxylating capacity may be a future alternative to dietary treatment of PKU. (J. Clin. Invest. 1990.86:317-322.)

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.

Thompson¹,

Halliday²

1990

J. Clin. Invest.

View full text Add to dashboard Cite

show abstract

“…The test described by Blitzer et at. [8] can improve the diagnostic decision by using a multivariate discriminant procedure, although, if differentiation between PKU and HPA groups is complete, some overlap is evident between the control and the HPA groups.…”

Section: Phenylalanine Loading Testmentioning

confidence: 98%