| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8344200 | Molecular Genetics and Metabolism | 2011 | 4 Pages |
Abstract
BH4 responsive patients have smaller variations in blood Phe levels and tighter Phe/Tyr ratios than non-BH4 responsive patients, particularly at high blood Phe levels. If decreased fluctuations in Phe levels and a decreased Phe/Tyr ratio are indeed neuro-protective, then BH4 responsiveness is advantageous over diet alone in PKU. Neuropsychological testing in patients who have been treated with BH4 long term may be able to ascertain the clinical benefit of these biochemical findings.
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Authors
Maureen Humphrey, Judy Nation, Ivan Francis, Avihu Boneh,