Refractory Seizures and Encephalopathy in a Neonate: A Rare Case of Molybdenum Cofactor Deficiency Type B - A Case Report
Background: Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive inborn error of metabolism causing deficiency in molybdenum-dependent enzymes, leading to accumulation of toxic metabolites such as sulfite, resulting in severe neurological damage. We describe a neonate with MoCD type B...
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| Автори: | , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Wolters Kluwer Medknow Publications
2025-10-01
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| Серія: | Indian Pediatrics Case Reports |
| Предмети: | |
| Онлайн доступ: | https://journals.lww.com/10.4103/ipcares.ipcares_150_25 |
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