PMID: 20650141Oct 1, 1995Paper

Serotonin deficiency in phenylketonuria embryopathy

Toxicology in Vitro : an International Journal Published in Association with BIBRA
C RouxM Kolf

Abstract

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 (1) 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 embr...Continue Reading

References

Feb 1, 1978·Biological Reviews of the Cambridge Philosophical Society·D A New
Oct 1, 1991·Journal of Medical Genetics·C RouxA Munnich
Oct 15, 1993·Biochemical and Biophysical Research Communications·O BeckP Hjemdahl

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Citations

Dec 1, 2001·Trends in Cardiovascular Medicine·C G Nebigil, L Maroteaux
Mar 23, 2007·Genes, Brain, and Behavior·W S NeckameyerS F Goodwin
Dec 22, 2006·Proceedings of the National Academy of Sciences of the United States of America·Francine CôtéGuilan Vodjdani
Aug 16, 2000·Proceedings of the National Academy of Sciences of the United States of America·C G NebigilL Maroteaux
Jul 26, 2007·The European Journal of Neuroscience·Sameera DasariRobin L Cooper

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