Treatable neurotransmitter deficiency in mild phenylketonuria

Détails

ID Serval
serval:BIB_104D4977B5F8
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
Institution
Titre
Treatable neurotransmitter deficiency in mild phenylketonuria
Périodique
Neurology
Auteur(s)
Bonafe  L., Blau  N., Burlina  A. P., Romstad  A., Guttler  F., Burlina  A. B.
ISSN
0028-3878
Statut éditorial
Publié
Date de publication
09/2001
Peer-reviewed
Oui
Volume
57
Numéro
5
Pages
908-11
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Sep 11
Résumé
The authors describe a case of neurologic involvement in mild hyperphenylalaninemia (HPA), not due to tetrahydrobiopterin (BH(4)) deficiency, with low levels of monoamine neurotransmitter metabolites in CSF. The combined BH(4)-Phe loading test suggested a BH(4) response, confirmed by clinical improvement after BH(4) therapy. Molecular study revealed a compound heterozygosity of the phenylalanine hydroxylase alleles: a mild HPA-associated mutation (T380M) and the new mutation D151E. This case demonstrates that even mild HPA, generally considered a benign disorder, may present neurologic impairment.
Mots-clé
Adolescent Antioxidants/*therapeutic use Biogenic Monoamines/blood/*deficiency Biopterin/*analogs & derivatives/blood/*deficiency/*therapeutic use Female Humans Phenylalanine/blood/therapeutic use Phenylketonurias/blood/*drug therapy Tyrosine/blood
Pubmed
Web of science
Création de la notice
21/01/2008 13:50
Dernière modification de la notice
20/08/2019 13:37
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