Ogier H, Saudubray J M, Charpentier C, Munnich A, Perignon J L, Kesseler A, Frezal J
Ann Med Interne (Paris). 1982;133(8):594-6.
The clinical features and biological results in a second patient with a metabolic defect of the molybdenum cofactor are described. The first case was reported in 1978 by Duran et al. Their clinical description was similar with early encephalopathy and myoclonial and dislocation of the lens. Biologically, this condition is characterised by secondary hypo-uricemia and hypo-uricuria due to xanthine oxidase deficiency and by sulphituria, resulting from sulphite oxidase deficiency. These two enzymes have a common hepatic molybdenum cofactor, the structure and metabolism of which are only partially known.
本文描述了第二例患有钼辅因子代谢缺陷患者的临床特征和生物学检查结果。首例病例由杜兰等人于1978年报道。他们的临床描述与早期脑病、肌阵挛和晶状体脱位相似。从生物学角度来看，这种病症的特征是由于黄嘌呤氧化酶缺乏导致继发性低尿酸血症和低尿酸尿症，以及由于亚硫酸盐氧化酶缺乏导致硫尿症。这两种酶具有共同的肝脏钼辅因子，其结构和代谢仅部分为人所知。
