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Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
MedLine Citation:
PMID:  21880449     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is the most frequent form of tetrahydrobiopterin (BH4) deficiency related to hyperphenylalaninemia (HPA). PTPS deficiency may not only cause a typical phenylketonuric phenotype, but is also accompanied by various neurological signs and symptoms due to impaired synthesis of catecholamines and serotonin. The treatment of PTPS deficiency is aimed at normalizing phenylalanine levels and brain neurotransmitters. The BH4 can be administered to normalize phenylalanine (PHE) levels easily, but, owing to severe side effects, the neurotransmitters, l-DOPA and 5-hydroxytryptophan, should be administered for these patients very carefully. However, optimal dosage of the neurotransmitters for PTPS deficiency patients is difficult to be determined. Several reports have described unsatisfied outcomes in a large percentage of patients with PTPS deficiency, despite early detection and treatment. Between 1988 and 2000, 12 newborns with PTPS deficiency identified by newborn screening were referred and received early treatment at our hospital. The mean IQ score of these 12 patients was 96.7 (±9.7; range: 86-119), which is considerably higher than previous reports of other populations of PTPS-deficient patients. In this report, we reviewed the disorders of BH4 briefly and then described treatments of our PTPS-deficient patients.
Authors:
Dau-Ming Niu
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-8-29
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  -     Publication Date:  2011 Aug 
Date Detail:
Created Date:  2011-9-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Affiliation:
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
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