Related Experiment Video

Updated: Jun 25, 2025

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

405

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

Allan M Lund1,2,3, Siren Berland4, Trine Tangeraas3,5

  • 1Department of Clinical Medicine, University of Copenhagen, and Centre for Inherited Metabolic Diseases, Departments of Pediatrics.

Pediatrics
|May 29, 2024
PubMed

Insights

Molybdenum cofactor deficiency can present later in childhood with developmental delays. Early diagnosis and treatment are vital for preserving neurological function in these milder, late-onset cases.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • Molybdenum cofactor deficiency (MocoD) classically presents in neonates with severe symptoms like intractable seizures.
  • Milder forms of MocoD may present later, often before age 2, with developmental delays, potentially leading to delayed diagnosis.
  • Timely diagnosis and intervention are crucial for mitigating neurological damage in MocoD patients.

Purpose of the Study:

  • To highlight the presentation of late-onset Molybdenum cofactor deficiency type A (MocoD-A).
  • To emphasize the importance of considering MocoD in children with unexplained developmental delays.
  • To discuss the critical role of early diagnosis and FDA-approved substrate replacement therapy.

Main Methods:

  • Case report detailing the clinical presentation and diagnostic journey of two children with late-onset MocoD-A.
  • Review of diagnostic criteria and treatment protocols for Molybdenum cofactor deficiency.

Main Results:

  • Two cases of MocoD-A presented with delayed onset, characterized by developmental delays rather than neonatal seizures.
  • The patients' conditions underscore the variability in MocoD presentation and the risk of misdiagnosis or delayed diagnosis.

Conclusions:

  • Late-onset MocoD-A can manifest subtly with developmental delays, necessitating a high index of suspicion.
  • Prompt diagnosis and initiation of substrate replacement therapy are essential for favorable neurological outcomes.
  • This case series reinforces the need for comprehensive evaluation in children with developmental delays.

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