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
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
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