Molybdenum cofactor deficiency (MoCD): ultra-rare and destructive, so urgent diagnosis is crucial
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The impact of MoCD on newborns and their families can be profound and prolonged. Identifying MoCD Type A early can be the first step in making a difference in the lives of these newborns and their families.
MoCD is a rare neurological disorder in newborns that can lead to severe brain toxicity, developmental delays, and death.1 Symptoms such as intractable seizures often appear within hours to days following birth.1-3 Progression is rapid, so clinicians need to take action as soon as symptoms occur.4,5
Origin believes that an ultra-rare disorder like MoCD deserves focus and commitment just like more common life-threatening diseases. We are using our unique expertise and specialized resources to alert clinicians about MoCD Type A and give them the tools to diagnose it as early as possible. Dedicated to bringing timely therapy to children born with MoCD Type A, we are developing a novel substrate replacement therapy that is currently being studied in clinical trials.
- Mechler K et al. Genet Med. 2015;17(12):965-970.
- Veldman A et al. Pediatrics. 2010;125(5):e1249-e1254.
- Schwahn BC et al. Lancet. 2015;386(10007):1955-1963.
- Durmaz MS et al. Radiol Case Rep. 2018;13(3):592-595.
- Zaki MS et al. Eur J Paediatr Neurol. 2016;20(5):714-722.