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 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.
Ghozlan
Aline
A
Unité INSERM U393, Département de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France. acghozlan@yahoo.fr
Varoquaux
Odile
O
Abadie
Véronique
V
D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008995:Monoamine Oxidase / Q000235:genetics*; D010627:Phenethylamines / Q000652:urine*; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000235:genetics* / Q000652:urine*
D010627:Phenethylamines; C029261:phenethylamine; D010649:Phenylalanine; D008995:Monoamine Oxidase