Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.

Détails

ID Serval
serval:BIB_F421D063630D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
Périodique
European Journal of Pediatrics
Auteur(s)
Superti-Furga A., Steinmann B., Duc G., Gitzelmann R.
ISSN
0340-6199 (Print)
ISSN-L
0340-6199
Statut éditorial
Publié
Date de publication
1991
Volume
150
Numéro
7
Pages
493-497
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
Intrauterine growth retardation, microcephaly, and developmental delay in two first cousins lead to the recognition of phenylketonuria (PKU) in their mothers, 24- and 23 year-old sisters with blood phenylalanine concentrations of approx. 1.2 mmol/l who had never been treated and had no overt mental retardation. Both mothers were shown to be homozygous for a point mutation leading to an Arg-to-Gln substitution at codon 261 of the phenylalanine hydroxylase gene, a mutation which has been recently identified and tentatively associated with a mild variant of PKU. Our observation suggests that homozygosity for the Arg-261-Gln mutation can indeed result in "mild" PKU with little or perhaps no mental retardation, but also indicates that in such women, who may go unrecognized if not screened for, blood phenylalanine is elevated enough to cause the maternal PKU syndrome in their offspring.
Mots-clé
Adult, Arginine/genetics, Base Sequence, Female, Glutamine/genetics, Homozygote, Humans, Infant, Infant, Newborn, Male, Microcephaly/genetics, Molecular Sequence Data, Mothers, Mutation, Pedigree, Phenylalanine Hydroxylase/genetics, Phenylketonurias/genetics
Pubmed
Création de la notice
14/03/2011 17:14
Dernière modification de la notice
03/03/2018 22:43
Données d'usage