Screening for phenylketonuria
| Autor: | James E. Wraith |
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| Rok vydání: | 1994 |
| Předmět: | |
| Zdroj: | Current Paediatrics. 4:1-4 |
| ISSN: | 0957-5839 |
| DOI: | 10.1016/0957-5839(94)90002-7 |
| Popis: | Phenylketonuria can be defined as a persistent hyperphenylalaninaemia (> 240 umol/l ) , with associated secondary tyrosine deficiency, and with excretion of phenylketones in the urine of the affected individual. A number of different enzyme deficiencies can be responsible for these biochemical findings, (Fig. 1 ), but by far the majority of affected patients will have a recessively inherited defect in phenylalanine hydroxylase activity and these form the basis of this review. |
| Databáze: | OpenAIRE |
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