Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 38808412.
- Also identified by DOI 10.1542/peds.2023-062548.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Developmental Disabilities
- Metal Metabolism, Inborn Errors