Parini R, Briscioli V, Caruso U, Dorche C, Fortuna R, Minniti G, Selicorni A, Vismara E, Mancini G
Istituto di Pediatria, Ospedale Istituti Clinici di Perfezionamento, Milano, Italy.
Am J Med Genet. 1997 Dec 19;73(3):272-5. doi: 10.1002/(sici)1096-8628(19971219)73:3<272::aid-ajmg8>3.0.co;2-u.
Molybdenum cofactor deficiency is an autosomal recessive disorder characterized by lack of activity of the enzymes sulfite oxidase, aldehyde oxidase, and xanthine dehydrogenase or oxidase. The clinical manifestations are indistinguishable from those of isolated sulfite oxidase deficiency: craniofacial alterations, intractable neonatal convulsions, very severe mental retardation, lens dislocation, and death in the first decade of life. Lens dislocation is found in nearly all patients after neonatal age. In the present case it developed late (at the age of 8 years) and was preceded by bilateral spherophakia. We hypothesize that an abnormal relaxation of the zonular fibers is the cause of spherophakia in this disease; this causes lens dislocation eventually, after days, months, or years.
钼辅因子缺乏症是一种常染色体隐性疾病，其特征是亚硫酸盐氧化酶、醛氧化酶以及黄嘌呤脱氢酶或氧化酶缺乏活性。临床表现与孤立性亚硫酸盐氧化酶缺乏症无法区分：颅面畸形、难治性新生儿惊厥、极重度智力发育迟缓、晶状体脱位以及在生命的第一个十年内死亡。几乎所有新生儿期后的患者都会出现晶状体脱位。在本病例中，晶状体脱位出现较晚（8岁时），且之前有双侧球形晶状体。我们推测，在这种疾病中，悬韧带纤维异常松弛是球形晶状体的病因；这最终会在数天、数月或数年之后导致晶状体脱位。
