Urinary pterin analysis in screening of tetrahydrobiopterin def iciency / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
;
(12)2000.
Artigo
em Chinês
| WPRIM
| ID: wpr-582268
ABSTRACT
Objective To screen out the tetrahydrobiopterin def iciency in patients with hyperphenylalaninemia by urinary pterin analysis. Methods Analysis of urinary neopterin (N) and biopterin (B) was done in 96 patients with hyperphenylalaninemia by high performance liquid chromatography. Combined BH4 loading test was performed for patients with abnormal urinary pterin profiles. Results Eleven patients were diagnosed as ha ving BH4 deficiency caused by 6 pyruvoyl tetrahydrobiopterin synthase deficiency. They had a much high N/B ratio(N/B197?250) and a very low B percentage (1.0?0.8)%. Blood phenylalanine levels were decreased from (720 1 200) ?mol/L to (120 240) ?mol/L after taking BH4 tablets in 4 of 11 patients. Conclusion The incidence of BH4 deficiency among hyperphenylalaninemia is about 12%. Analysis of urinary pterin is feasible and effective in screening of BH4 deficiency.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Idioma:
Chinês
Revista:
Chinese Journal of Laboratory Medicine
Ano de publicação:
2000
Tipo de documento:
Artigo
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