Institut für Humangenetik, Universitätsmedizin Göttingen, Germany.
Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390.
All molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum cofactor." In humans, four molybdoenzymes are known: aldehyde oxidase, mitochondrial amidoxime reducing component (mARC), xanthine oxidoreductase, and sulfite oxidase. Mutations in the genes encoding the biosynthetic MoCo pathway enzymes abrogate the activities of all molybdoenzymes and result in the "combined" form of MoCo deficiency, which is clinically very similar to isolated sulfite oxidase deficiency, caused by mutations in the gene for the corresponding apoenzyme. Both deficiencies are inherited as an autosomal-recessive disease and result in progressive neurological damage and early childhood death in most cases. The majority of mutations leading to MoCo deficiency have been identified in the genes MOCS1 (type A deficiency), MOCS2 (type B deficiency), with one reported in GPHN. For type A deficiency an effective substitution therapy has been described recently.
除了细菌固氮酶以外的所有含钼酶都含有相同的钼辅因子（MoCo），这种钼辅因子在所有生物中通过保守途径合成，因此也被称为“通用钼辅因子”。在人类中，已知有四种钼酶：醛氧化酶、线粒体酰胺肟还原成分（mARC）、黄嘌呤氧化还原酶和亚硫酸盐氧化酶。编码 MoCo 生物合成途径酶的基因突变会使所有钼酶失活，导致“联合”型 MoCo 缺乏，这种缺乏在临床上与由相应脱辅基酶基因突变引起的孤立亚硫酸盐氧化酶缺乏非常相似。这两种缺乏都是常染色体隐性遗传病，大多数情况下会导致进行性神经损伤和儿童早期死亡。导致 MoCo 缺乏的大多数突变已在 MOCS1（A 型缺乏）和 MOCS2（B 型缺乏）基因中被鉴定出来，在 GPHN 中也有一个报道。最近已经描述了针对 A 型缺乏的有效替代治疗方法。
