Cohen L H, Vamos E, Heinrichs C, Toppet M, Courtens W, Kumps A, Mardens Y, Carlsson B, Grillner L, Larsson A
Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.
Eur J Pediatr. 1997 Dec;156(12):935-8. doi: 10.1007/s004310050746.
Two female siblings, born to consanguineous parents, presented with a similar phenotype characterized by severe growth and developmental failure, dysmorphic features, thyroid and gonadal dysfunction, autistic traits and hand stereotypes resembling Rett syndrome. In the elder patient, analysis of urinary organic acids disclosed a very high excretion of 5-oxoproline (4.2 to 8.1 mol/mol creatinine) and enzyme assays of leucocyte extracts revealed a profound deficiency of 5-oxoprolinase. However, normal urinary organic acid profiles were found in the younger child. In view of their distinct dysmorphic features and severe growth deficiency, these siblings cannot be considered as Rett Syndrome variants. The Dubowitz and carbohydrate-deficient glycoprotein syndromes were also excluded clinically and biochemically respectively. We conclude that these patients suffer from a hitherto undescribed autosomal recessive disorder, unrelated to the 5-oxoprolinase deficiency of the elder sib.
The present findings give evidence that 5-oxoprolinase deficiency is not associated with a distinct morbid phenotype.
一对由近亲结婚的父母所生的女性同胞，表现出相似的表型，其特征为严重的生长和发育迟缓、畸形特征、甲状腺和性腺功能障碍、自闭症特征以及类似瑞特综合征的手部刻板动作。在年长患者中，尿有机酸分析显示5-氧脯氨酸排泄量极高（4.2至8.1摩尔/摩尔肌酐），白细胞提取物的酶分析显示5-氧脯氨酸酶严重缺乏。然而，在年幼患儿中发现尿有机酸谱正常。鉴于她们明显的畸形特征和严重的生长发育不足，这些同胞不能被视为瑞特综合征变异型。分别从临床和生化角度排除了杜波维茨综合征和糖蛋白缺乏综合征。我们得出结论，这些患者患有一种迄今未描述的常染色体隐性疾病，与年长同胞的5-氧脯氨酸酶缺乏无关。
目前的研究结果表明5-氧脯氨酸酶缺乏与特定的病态表型无关。
