Department of Pediatric Neurology, Erciyes University Medical Faculty, Kayseri, Turkey.
Dev Med Child Neurol. 2010 Sep;52(9):868-72. doi: 10.1111/j.1469-8749.2010.03724.x. Epub 2010 Jun 22.
Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy.
钼辅因子（MoCo）缺乏症是一种罕见的常染色体隐性遗传性代谢紊乱，导致醛氧化酶、黄嘌呤脱氢酶和亚硫酸盐氧化酶联合缺乏。我们报告了一例 MoCo 缺乏症男性婴儿，其临床表现为小头畸形、出生后不久即出现难治性癫痫、喂养困难和发育迟缓。MOCS1、MOCS2 和 GEPH 基因的测序以及单核苷酸多态性基因分型阵列分析，据我们所知，首次在文献中报道了 MoCo 缺乏症/母源单亲二体性的异常遗传。在 10 个月大时，他现在仍然存在小头畸形和发育迟缓，他的癫痫发作通过苯巴比妥、氯硝西泮和氨己烯酸治疗得到控制。
