| Autor: |
O'Flynn, Margaret E, Justice, Parvin, Hsia, David Y Y, Lawson, Robert B |
| Zdroj: |
Pediatric Research; May 1967, Vol. 1 Issue: 3 p218-219, 2p |
| Abstrakt: |
The recent widespread screening for phenylketonuria among newborn infants has lead to the recognition that not all instances of hyperphenylalanemia is caused by phenylketonuria (PKU). Thispaper describes enzyme studies in four patients with hyperphenylalanemia.Case 1 is a patient with ‘classical’ PKU. Case 2 is an infant who was found to have a plasma phenylalanine (PPA) of 17 mg% at three weeks who showed ‘mild’ PKU. Case 3 is a 35y-ear-old retarded female with PPA values ranging from 6.6 mg % to 11.6 mg % on a regular diet. Case 4 is an infant with a PPA value of 45 mg % at 4 days and 76.4 mg % at 2 ½ weeks. She was treated with low-phenylalanine diet for 15 months and then returned to a regular diet. For the past 7 months on a regular diet, the PPA has ranged between 4.6 mg % and 10.7 mg %. Cases 3 and 4 may be viewed as hyperphenylalanemia without PKU.Phenylalanine hydroxylase was determined by the method of LaDu and Zannoni and fresh liver obtained by biopsy. The results expressed as μM tyrosine14C formed/Gm protein/45 minutes were as follows:These data suggest that the ‘classical’ and ‘mild’ form of PKU probably have the same basic metabolic lesion. They show that hyperphenylalanemia without PKU is not caused by cofactor deficiency and represents a true ‘partial’ PKU as reflected by slightly elevated PPA, delayed clearance of phenylalanine by tolerance test and decrease of phenylalanine hydroxylase in liver. (APS) |
| Databáze: |
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