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

Allan M Lund*, Siren Berland, Trine Tangeraas, Mette Christensen, Nils Confer, Liza Squires, Bente Brannsether

*Corresponding author af dette arbejde

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.

OriginalsprogEngelsk
Artikelnummere2023062548
TidsskriftPediatrics
Vol/bind153
Udgave nummer6
Antal sider7
ISSN0031-4005
DOI
StatusUdgivet - 2024

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