Yapicioğlu Hacer, Satar Mehmet, Tutak Ercan, Narli Nejat, Topaloğlu A Kemal
Division of Neonatology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Turk J Pediatr. 2004 Jan-Mar;46(1):72-5.
Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency. The severe form of the disease, generalized GSSD, is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. We report a female infant who had a severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia. High level of 5-oxoproline was detected in her urine and a diagnosis of generalized GSSD was made. She died of severe metabolic acidosis and sepsis at the age of six weeks.
焦谷氨酸尿症（5-氧脯氨酸尿症）是一种罕见的常染色体隐性疾病，由谷胱甘肽合成酶缺乏症（GSSD）或5-氧脯氨酸酶缺乏症引起。该疾病的严重形式，即全身性GSSD，其特征为急性代谢性酸中毒，通常在新生儿期出现，伴有溶血性贫血和进行性脑病。我们报告了一名患有严重代谢性酸中毒、高阴离子间隙、溶血性贫血和高胆红素血症的女婴。在她的尿液中检测到高水平的5-氧脯氨酸，并诊断为全身性GSSD。她在六周龄时死于严重代谢性酸中毒和败血症。
