Is monoamine oxydase-B a modifying gene and phenylethylamine a harmful compound in phenylketonuria?

We report here very high urinary phenylethylamine level in a phenylketonuric newborn and variable phenylethylamine levels in phenylketonuric patients with similar phenylalanine levels. As phenylethylamine, a very toxic metabolite of phenylalanine, is rapidly degraded by monoamine oxydase type B, an...

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Veröffentlicht in:Molecular genetics and metabolism 2004-12, Vol.83 (4), p.337-340
Hauptverfasser: Ghozlan, Aline, Varoquaux, Odile, Abadie, Véronique
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Sprache:eng
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Zusammenfassung:We report here very high urinary phenylethylamine level in a phenylketonuric newborn and variable phenylethylamine levels in phenylketonuric patients with similar phenylalanine levels. As phenylethylamine, a very toxic metabolite of phenylalanine, is rapidly degraded by monoamine oxydase type B, an enzyme that has a very low activity in neonates, these results are consistent with those of the hypothesis of MAO-B acting as a modifying gene in phenylketonuria.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2004.07.004