Division of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Pediatrics. 2012 Oct;130(4):e1005-10. doi: 10.1542/peds.2011-3330. Epub 2012 Sep 17.
Molybdenum cofactor deficiency (MoCD) is a lethal autosomal recessive inborn error of metabolism with devastating neurologic manifestations. Currently, experimental treatment with cyclic pyranopterin monophosphate (cPMP) is available for patients with MoCD type A caused by a mutation in the MOCS-1 gene. Here we report the first case of an infant, prenatally diagnosed with MoCD type A, whom we started on treatment with cPMP 4 hours after birth. The most reliable method to evaluate neurologic functioning in early infancy is to assess the quality of general movements (GMs) and fidgety movements (FMs). After a brief period of seizures and cramped-synchronized GMs on the first day, our patient showed no further clinical signs of neurologic deterioration. Her quality of GMs was normal by the end of the first week. Rapid improvement of GM quality together with normal FMs at 3 months is highly predictive of normal neurologic outcome. We demonstrated that a daily cPMP dose of even 80 μg/kg in the first 12 days reduced the effects of neurodegenerative damage even when seizures and cramped-synchronized GMs were already present. We strongly recommend starting cPMP treatment as soon as possible after birth in infants diagnosed with MoCD type A.
钼辅因子缺乏症（MoCD）是一种致命的常染色体隐性遗传代谢缺陷病，具有破坏性的神经表现。目前，对于由 MOCS-1 基因突变引起的 MoCD 型 A 患者，可采用环吡喃三磷酸单核苷酸（cPMP）进行实验性治疗。本文报道了首例在产前诊断为 MoCD 型 A 的婴儿，在出生后 4 小时即开始接受 cPMP 治疗。评估婴儿早期神经功能的最可靠方法是评估一般性运动（GMs）和不安宁运动（FMs）的质量。在第一天出现短暂的癫痫发作和痉挛性同步 GMs 后，我们的患者没有出现进一步的神经恶化迹象。到第一周结束时，她的 GMs 质量正常。GMs 质量的快速改善和 3 个月时正常的 FMs 高度预示着正常的神经结局。我们证明，即使在癫痫发作和痉挛性同步 GMs 已经存在的情况下，在出生后的前 12 天内，每天 80μg/kg 的 cPMP 剂量也能减轻神经退行性损伤的影响。我们强烈建议在确诊为 MoCD 型 A 的婴儿出生后尽快开始 cPMP 治疗。
