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Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Mol Genet Metab. 2008 Mar; 93(3):295-305.MG

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

Authors+Show Affiliations

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18060820

Citation

Jäggi, Leandra, et al. "Outcome and Long-term Follow-up of 36 Patients With Tetrahydrobiopterin Deficiency." Molecular Genetics and Metabolism, vol. 93, no. 3, 2008, pp. 295-305.
Jäggi L, Zurflüh MR, Schuler A, et al. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab. 2008;93(3):295-305.
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. (2008). Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Molecular Genetics and Metabolism, 93(3), 295-305.
Jäggi L, et al. Outcome and Long-term Follow-up of 36 Patients With Tetrahydrobiopterin Deficiency. Mol Genet Metab. 2008;93(3):295-305. PubMed PMID: 18060820.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. AU - Jäggi,Leandra, AU - Zurflüh,Marcel R, AU - Schuler,Agnes, AU - Ponzone,Alberto, AU - Porta,Francesco, AU - Fiori,Laura, AU - Giovannini,Marcello, AU - Santer,René, AU - Hoffmann,Georg F, AU - Ibel,Hans, AU - Wendel,Udo, AU - Ballhausen,Diana, AU - Baumgartner,Matthias R, AU - Blau,Nenad, Y1 - 2007/12/03/ PY - 2007/08/31/received PY - 2007/10/06/revised PY - 2007/10/06/accepted PY - 2007/12/7/pubmed PY - 2008/5/20/medline PY - 2007/12/7/entrez SP - 295 EP - 305 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 93 IS - 3 N2 - 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 SN - 1096-7206 UR - https://wwww.unboundmedicine.com/medline/citation/18060820/Outcome_and_long_term_follow_up_of_36_patients_with_tetrahydrobiopterin_deficiency_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(07)00447-7 DB - PRIME DP - Unbound Medicine ER -