Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

Détails

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Etat: Supprimée
Version: de l'auteur⸱e
ID Serval
serval:BIB_CC6A32F6EC86
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
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Périodique
Molecular Genetics and Metabolism
Auteur⸱e⸱s
Jäggi L., Zurflüh M.R., Schuler A., Ponzone A., Porta F., Fiori L., Giovannini M., Santer R., Hoffmann G.F., Ibel H., Wendel U., Ballhausen D., Baumgartner M.R., Blau N.
ISSN
1096-7206 (Electronic)
ISSN-L
1096-7192
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
93
Numéro
3
Pages
295-305
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Résumé
We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency and 10 patients with dihydropteridine reductase (DHPR) deficiency. These are the two most common forms of the autosomal-recessively inherited tetrahydrobiopterin (BH4) deficiency. Time of diagnosis, dosage of BH4 and neurotransmitter precursors, folinic acid substitution, and levels of 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid (HVA) in cerebrospinal fluid (CSF) are essential parameters in the follow-up of patients. Unfortunately, treatment protocols vary greatly among patients and clinical centers, and CSF investigations and outcome assessments are not always available. Seventeen patients with PTPS deficiency and four patients with DHPR deficiency were diagnosed within 2 months after birth. In 14 patients with PTPS deficiency (54%; 9 early and 5 late diagnosed) and 2 patients with DHPR deficiency (20%; all early diagnosed) no developmental delay is observed, while in 10 patients with PTPS deficiency (38%; 6 early and 4 late diagnosed) and 8 patients with DHPR deficiency (80%; 2 early and 6 late diagnosed) development was delayed. Two PTPS-deficient patients died in the newborn period. DHPR deficiency seems to be more severe than PTPS deficiency and it is clearly the onset of treatment that determines the outcome. Our data suggest that diagnosis within the first month of life is essential for a good outcome and that low CSF5 HIAA and HVA values in CSF could be an indicator for the ongoing developmental impairment
Mots-clé
Adolescent, Adult, Biopterin/analogs & derivatives, Biopterin/deficiency, Child, Dihydropteridine Reductase/blood, Female, Follow-Up Studies, Homovanillic Acid/cerebrospinal fluid, Humans, Hydroxyindoleacetic Acid/cerebrospinal fluid, Infant, Newborn, Male, Phenylketonurias/diagnosis, Phenylketonurias/therapy, Phosphorus-Oxygen Lyases/deficiency
Pubmed
Web of science
Création de la notice
29/03/2010 13:21
Dernière modification de la notice
20/08/2019 16:47
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