Document Detail

Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
MedLine Citation:
PMID:  11940335     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: To assess the incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobiopterin deficient patients. METHODS: Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. Further combined loading tests with phenylalanine (Phe) (100 mg/kg) and tetrahydrobiopterin (BH4) (7.5 mg/kg) were performed in suspected patients with abnormal urinary pterin profiles. Gene mutation analysis was performed for patients with BH4 deficiency and their parents. BH4 deficient patients were treated with BH4 and neurotransmitter precursors after diagnosis. Blood phenylalanine levels, clinical symptoms and mental development were followed up. RESULTS: Eleven patients were diagnosed as having BH4 deficiency caused by 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency. The incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese was 10%. Combined loading tests with phenylalanine and oral BH4 were done in 4 of 11 patients and their phenylalanine levels were decreased to normal 4 - 6h after BH4 administration. Four different mutations (P87S, N52S, D96N and G144R) in the PTPS gene were detected in 5 families. Five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors (L-dopa plus carbidopa, and 5-hydroxytryptophan). They had satisfactory physical and mental development after treatment. One patient with partial PTPS deficiency had normal growth and mental development without treatment. CONCLUSIONS: Our results emphasize that screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnosis. Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors.
Jun Ye; Xiaoqing Liu; Xieqin Ma; Yafen Zhang; Xiaodong Huang; Ruiguan Chen; Xuefan Gu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Chinese medical journal     Volume:  115     ISSN:  0366-6999     ISO Abbreviation:  Chin. Med. J.     Publication Date:  2002 Feb 
Date Detail:
Created Date:  2002-04-09     Completed Date:  2002-04-19     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7513795     Medline TA:  Chin Med J (Engl)     Country:  China    
Other Details:
Languages:  eng     Pagination:  217-21     Citation Subset:  IM    
Department of Pediatric Endocrionolgy and Genetic Metabolism, Xin Hua Hospital, Shanghai Second Medical University and Shanghai Institute for Pediatric Research, Shanghai 200092, China.
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MeSH Terms
Biopterin / administration & dosage,  analogs & derivatives*,  deficiency*,  urine
DNA Mutational Analysis
DNA, Complementary / chemistry,  genetics
Follow-Up Studies
Genetic Testing
Mutation, Missense
Neopterin / urine
Phenylketonurias / blood,  enzymology,  genetics*
Phosphorus-Oxygen Lyases / genetics*,  metabolism
Reg. No./Substance:
0/DNA, Complementary; 17528-72-2/5,6,7,8-tetrahydrobiopterin; 22150-76-1/Biopterin; 670-65-5/Neopterin; EC 4.6.-/Phosphorus-Oxygen Lyases; EC 4.6.10/6-pyruvoyltetrahydropterin synthase
Erratum In:
Chin Med J (Engl) 2002 Jun;115(6):809

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