Orendác M, Kozich V, Zeman J, Hyánek J, Bzdúch V, Misovicová N, Marklová E, Vad'urová L, Pijácková A
Ustav dĕdicných metabolických poruch 1. LF UK a VFN, Praha.
Cas Lek Cesk. 2000 Aug 16;139(16):500-7.
Homocystinuria due to cystathionine beta-synthase deficiency is an autosomal recessive disorder of methionine metabolism. It manifests with vascular, central nervous system and connective tissue disturbances, and phenotypically resembles Marfan's syndrome. We analysed the clinical course of homocystinuria in Czech and Slovak patients.
The group of homocystinuric patients consisted of 19 individuals (12 males and 7 females) aged 5-32 years (average age 18 years), who were diagnosed between 1980 and 1999. The overall incidence of homocystinuria in the Czech and Slovak Republics was 1:287,000. The proportion of pyridoxine-responsive patients was 47%. The average follow-up period was 10 years (range 1 month to 19 years). The prevalence of the individual signs in the group was as follows: lens dislocation--95% of patients, progressive myopia--79%, marfanoid habitus--74%, kyfoscoliosis--68%, osteoporosis--63%, psychomotor retardation--58%, other neurologic symptomatology--58% and tromboembolism--21%. The average delay between the first sign of the disease and the time when the diagnosis was made was 4 years (range 1 to 14 years). At the time of diagnosis the average levels of metabolites in plasma were as follows: total homocysteine 348 mumol/l (range 211-536), free homocystine 70 mumol/l (range 0-203) and methionine 359 mumol/l (range 75-937).
Both the clinical course of homocystinuria due to the cystathionine beta-synthase deficiency and its incidence in the Czech and Slovak Republics are similar to those in other populations. Since homocystinuria is a treatable disease, it should be included in the differential diagnosis of Marfan's syndrome, tromboembolism and severe psychomotor retardation.
由于胱硫醚β-合酶缺乏引起的同型胱氨酸尿症是一种常染色体隐性蛋氨酸代谢紊乱疾病。其表现为血管、中枢神经系统和结缔组织功能紊乱，在表型上类似于马方综合征。我们分析了捷克和斯洛伐克患者同型胱氨酸尿症的临床病程。
同型胱氨酸尿症患者组由19例个体组成（12例男性和7例女性），年龄在5至32岁之间（平均年龄18岁），于1980年至1999年期间确诊。捷克和斯洛伐克共和国同型胱氨酸尿症的总体发病率为1:287,000。对吡哆醇有反应的患者比例为47%。平均随访期为10年（范围1个月至19年）。该组中各体征的患病率如下：晶状体脱位——95%的患者，进行性近视——79%，类马方体型——74%，脊柱后侧凸——68%，骨质疏松——63%，精神运动发育迟缓——58%，其他神经症状——58%，血栓栓塞——21%。疾病首发症状与确诊时间之间的平均延迟为4年（范围1至14年）。确诊时血浆中代谢物的平均水平如下：总同型半胱氨酸348μmol/L（范围211 - 536），游离同型胱氨酸70μmol/L（范围0 - 203），蛋氨酸359μmol/L（范围75 - 937）。
由于胱硫醚β-合酶缺乏引起的同型胱氨酸尿症的临床病程及其在捷克和斯洛伐克共和国的发病率与其他人群相似。鉴于同型胱氨酸尿症是一种可治疗的疾病，它应纳入马方综合征、血栓栓塞和严重精神运动发育迟缓的鉴别诊断中。
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