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

Pediatrics. 2024 Jun 1;153(6):e2023062548. doi: 10.1542/peds.2023-062548.

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.

Publication types

  • Case Reports

MeSH terms

  • Developmental Disabilities* / diagnosis
  • Developmental Disabilities* / etiology
  • Humans
  • Metal Metabolism, Inborn Errors* / complications
  • Metal Metabolism, Inborn Errors* / diagnosis
  • Molybdoferredoxin

Substances

  • Molybdoferredoxin

Supplementary concepts

  • Molybdenum cofactor deficiency