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Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
Chin Med J (Engl). 2002 Feb; 115(2):217-21.CM

Abstract

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.

Authors+Show Affiliations

Department of Pediatric Endocrionolgy and Genetic Metabolism, Xin Hua Hospital, Shanghai Second Medical University and Shanghai Institute for Pediatric Research, Shanghai 200092, China. ssxyjc@online.sh.cnNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

11940335

Citation

Ye, Jun, et al. "Screening for Tetrahydrobiopterin Deficiency Among Hyperphenylalaninemia Patients in Southern China." Chinese Medical Journal, vol. 115, no. 2, 2002, pp. 217-21.
Ye J, Liu X, Ma X, et al. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. Chin Med J (Engl). 2002;115(2):217-21.
Ye, J., Liu, X., Ma, X., Zhang, Y., Huang, X., Chen, R., & Gu, X. (2002). Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. Chinese Medical Journal, 115(2), 217-21.
Ye J, et al. Screening for Tetrahydrobiopterin Deficiency Among Hyperphenylalaninemia Patients in Southern China. Chin Med J (Engl). 2002;115(2):217-21. PubMed PMID: 11940335.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. AU - Ye,Jun, AU - Liu,Xiaoqing, AU - Ma,Xieqin, AU - Zhang,Yafen, AU - Huang,Xiaodong, AU - Chen,Ruiguan, AU - Gu,Xuefan, PY - 2002/4/10/pubmed PY - 2002/4/20/medline PY - 2002/4/10/entrez SP - 217 EP - 21 JF - Chinese medical journal JO - Chin Med J (Engl) VL - 115 IS - 2 N2 - 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. SN - 0366-6999 UR - https://wwww.unboundmedicine.com/medline/citation/11940335/Screening_for_tetrahydrobiopterin_deficiency_among_hyperphenylalaninemia_patients_in_Southern_China_ L2 - http://www.diseaseinfosearch.org/result/7038 DB - PRIME DP - Unbound Medicine ER -