Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.
Pediatrics
; 153(6)2024 Jun 01.
Article
in En
| MEDLINE
| ID: mdl-38808412
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Developmental Disabilities
/
Metal Metabolism, Inborn Errors
Limits:
Humans
Language:
En
Journal:
Pediatrics
Year:
2024
Document type:
Article