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Serotonin deficiency in phenylketonuria embryopathy

Roux, Charles and Madani, Mourad and Launay, Jean-Marie and Rey, Floriane and Citadelle, Danielle and Mulliez, Nicole and Kolf-Clauw, Martine Serotonin deficiency in phenylketonuria embryopathy. (1995) Toxicology in Vitro, 9 (5). 653-662. ISSN 0887-2333

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Official URL: http://dx.doi.org/10.1016/0887-2333(95)00071-F


The development and evolution of PKU can be prevented by prescribing an appropriate diet at an early age. A systematic neonatal screening has been set up in most countries. However, young women suffering from PKU give birth to very severely malformed children (PKU embryopathy: microcephaly, mental retardation, hypotrophy, cardiopathy) unless they again take up the specific diet, until the PHE level has lowered down to normal, before the beginning of gestation. The treatment has to be continued at least during the first months of gestation. This management is very unpleasant and sometimes not easily accepted. The mechanism of this embryopathy is still unknown. It is possible that (I) the excess of PHE or the presence of abnormal metabolites, or (2) serotonin deficiency (which is a feature of PKU) could be responsible for the maldevelopment of the embryo. Some authors consider that serontonin has a morphogenetic role in normal embryogenesis. Previously we described an experimental animal model using in vitro culture of rat embryos in human PKU sera. Mouse embryos have been subsequently used, since they show a greater sensitivity. Malformations, consisting essentially of neural tube defects, were present in almost 100% of the embryos cultured in serum from PKU patients. Using this animal model, we tested the hypothesis of serotonin deficiency. For this purpose, mouse embryos were cultured in human serum depleted of serotonin. Under these conditions, 100% of the embryos showed oculo-neural malformations characteristic of the experimental embryopathy. These results indicate the importance of serotonin deficiency in the occurrence of PKU embryopathy.

Item Type:Article
Additional Information:Thanks to Elsevier editor. The definitive version of the article is available at http://tinyurl.com/39452yx A page is missing between page 5 and page 6.
Audience (journal):International peer-reviewed journal
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Institution:French research institutions > Institut National de la Santé et de la Recherche Médicale - INSERM (FRANCE)
Other partners > Ecole Nationale Vétérinaire d'Alfort - ENVA (FRANCE)
Other partners > Assistance publique - Hôpitaux de Paris - AP-HP (FRANCE)
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Deposited On:03 Jun 2010 12:15

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