Ozand P T, Nyhan W L, al Aqeel A, Christodoulou J
Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Brain Dev. 1994 Nov;16 Suppl:7-11. doi: 10.1016/0387-7604(94)90091-4.
Three infants with malonic aciduria are reported, one of whom could be studied in detail. All children had severe and progressive encephalopathy with intermittent ketoacidosis and hypoglycemia. One infant died of cardiomyopathy. Biochemical studies revealed that one patient had neither malonyl-CoA decarboxylase nor glutaryl-CoA dehydrogenase deficiencies. This variant of malonic aciduria is different from that of four patients previously reported, both in its clinical and biochemical presentations. The biochemical pathology of this variant malonic aciduria is unknown.
报告了3例患有丙二酸尿症的婴儿，其中1例进行了详细研究。所有患儿均有严重且进行性的脑病，伴有间歇性酮症酸中毒和低血糖。1例婴儿死于心肌病。生化研究表明，1例患者既没有丙二酰辅酶A脱羧酶缺乏，也没有戊二酰辅酶A脱氢酶缺乏。这种丙二酸尿症变体在临床和生化表现上均与先前报道的4例患者不同。这种变体丙二酸尿症的生化病理尚不清楚。
