Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay-Reference-Cited by-同舟云学术

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

Published:2024-05-29 Issue:6 Volume:153 Page:
ISSN:0031-4005
Container-title:Pediatrics
language:en
Short-container-title:

Author:

Lund Allan M.¹²³,Berland Siren⁴,Tangeraas Trine²⁵,Christensen Mette⁴,Confer Nils⁶,Squires Liza⁶,Brannsether Bente⁷

Affiliation:

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

2. bEuropean Reference Network for Hereditary Metabolic Disorders

3. cClinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

4. dDepartment of Medical Genetics, Haukeland University Hospital, Bergen, Norway

5. eNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway

6. fOrigin Biosciences, Palo Alto, California

7. gStavanger University Hospital, Stavanger, Norway

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.

Publisher

American Academy of Pediatrics (AAP)

Link

https://publications.aap.org/pediatrics/article-pdf/doi/10.1542/peds.2023-062548/1659148/peds.2023-062548.pdf

Reference13 articles.

1. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency;Mechler;Genet Med,2015

2. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency;Misko;Neurol Genet,2020

3. Functional deficiencies of sulfite oxidase: differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia;Sass;Brain Dev,2010

4. Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase;Leimkühler;Hum Genet,2005

5. A Turkish case with molybdenum cofactor deficiency;Ichida;Nucleosides Nucleotides Nucleic Acids,2006