Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10834061 | Molecular Genetics and Metabolism | 2005 | 5 Pages |
Abstract
A neonate presented with hyperphenylalaninemia (HPA), with a persistently elevated phenylalanine/tyrosine ratio. The HPA was responsive to tetrahydrobiopterin (BH4). His clinical course was dominated by liver failure, associated with perinatal hemochromatosis. He also developed renal tubulopathy. HPA has not previously been reported in association with any of these features. We investigated the etiology of his condition, and discuss the possibility that this represents a novel single-gene disorder.
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Authors
Paula J. Waters, Minesh Khashu, Yolanda Lillquist, Christof Senger, Andre Mattman, Michelle Demos, Kenneth Setchell, Anthony Rupar, Patrick Scott, Nenad Blau, Hilary D. Vallance,