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

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Serval ID
serval:BIB_CC6A32F6EC86
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Journal
Molecular Genetics and Metabolism
Author(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
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
93
Number
3
Pages
295-305
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Abstract
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
Keywords
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
Create date
29/03/2010 12:21
Last modification date
20/08/2019 15:47
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