摘要
目的:探讨四氢生物蝶呤(BH4)不同反应性苯丙氨酸羟化酶(PAH)缺乏症的临床表现型特点。方法:37例PAH缺乏症患者均经尿蝶呤谱分析和红细胞二氢蝶啶还原酶(DHPR)测定排除BH4缺乏症后确诊。根据BH4负荷试验结果诊断BH4反应性PAH缺乏症13例和BH4无反应性PAH缺乏症24例;全部患者治疗前行脑电图检查并采用Gesell发育量表对其进行智力测定。随诊低苯丙氨酸(Phe)饮食治疗的Phe耐受量。结果:BH4反应性PAH缺乏症患者初诊血Phe浓度652.5±236.8μmol/L,为轻、中度高苯丙氨酸血症;BH4反应性PAH缺乏症患者发育商(DQ)显著高于BH4无反应性PAH缺乏症(P<0.01),脑电图异常率显著低于BH4无反应性PAH缺乏症(P<0.01)。两者的Phe耐受量亦有不同。结论:BH4不同反应性PAH缺乏症的生化代谢表型组成、DQ、神经系统受累程度和Phe耐受量方面均存在差异。
Objective：To understand the difference of clinic characteristics of phenylalanine hydroxylase（PAH） deficiency patients.Methods：Tetrahydrobiopterin （BH4）loading test was carried out for differential diagnosis 13 BH4 responsive PAH deficiency and BH4 no-responsive patients.The urine pterine profile analysis and the dihydropteridine reductase（DHPR）activity in dry blood filter spot were analyzed simultaneously.Electroencephalogram（EEG）and the average full scale development quotient（DQ）were performed in all patients and phenylalanine（Phe）tolerance was calculated during diet treatment.Results：The initial blood Phe level of BH4 responsive PAH deficiency was 652.5±236.8μmol/L,it showed mild or moderate hyperphenylalaninemia （HPA）.BH4 responsive deficiency had less EEG abnormal cases and higher DQ than BH4 no-responsive patients （P〈0.01）. Phe tolerance was different between the two groups.Conclusion：The clinic phenotype of the two types of PAH deficiency have significant difference.
出处
《中日友好医院学报》
2008年第2期70-72,共3页
Journal of China-Japan Friendship Hospital
