Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10834043 | Molecular Genetics and Metabolism | 2005 | 5 Pages |
Abstract
Recent studies have shown that a subgroup of phenylketonuric patients respond to high doses of BH4 (20Â mg/kg) by a decrease of plasma phenylalanine. A clinically significant response has been defined as a decrease in phenylalanine by more than 30% within 24Â h, after a BH4 challenge. We report our experience with 37 patients diagnosed with hyperphenylalaninemia, mild, moderate, or classical Phenylketonuria (PKU) using a seven day combined BH4 and phenylalanine load. Nine of the 37 patients responded with a 30% decrease in their phenylalanine levels in the first 8Â h of treatment. A total of 17 patients (46%) had a decrease of at least 30% during the study period. This study confirms that a significant number of patients with mild to moderate PKU will respond to a BH4 load. Furthermore, it confirms that the seven-day phenylalanine test is more sensitive in detecting BH4 responsive patients.
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Authors
John J. Mitchell, Bridget Wilcken, Ian Alexander, Carolyn Ellaway, Helen O'Grady, Veronica Wiley, John Earl, John Christodoulou,