Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay
Paediatrics
Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay
Paediatrics

Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay

Pediatrics. 2024 May 29:e2023062548. doi: 10.1542/peds.2023-062548. Online ahead of print.

ABSTRACT

Molybdenum cofactor deficiency classically presents in neonates with intractable seizures; however, milder cases generally present before age 2 years with developmental delays and may go undiagnosed. Early diagnosis, and safe, US Food and Drug Administration-approved substrate replacement are critical to preserve neurologic function. This article discusses 2 children who presented with late-onset molybdenum cofactor deficiency type A.

PMID:38808412 | DOI:10.1542/peds.2023-062548