Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
02
03
2020
accepted:
08
06
2020
entrez:
18
8
2020
pubmed:
18
8
2020
medline:
18
8
2020
Statut:
epublish
Résumé
To define the phenotypic spectrum of isolated sulfite oxidase (ISOD) and molybdenum cofactor deficiency (MoCD), aiming to promote timely diagnosis and assist in future clinical trial design. We analyzed clinical, radiographic, biochemical, and genetic data from 146 patients reported in the literature. We stratified patients into 2 phenotypic subgroups based on clinical and radiographic characteristics. In the first (Class I), patients presented early in life (age 1-50 days) with acute onset of neurologic symptoms and development of diffuse brain injury with cystic leukomalacia. Patients in the second subgroup (Class II) presented later in life (age 30 days-23 years) with prominent movement abnormalities and selective injury of the basal ganglia and cerebellum. A significant difference in survival estimates correlated with milder disease severity among Class II patients. Substantial overlap in sulfur-containing metabolite levels prevented discrimination of subgroups based on diagnostic biomarkers, but genotype-phenotype correlations suggested that residual SUOX activity may contribute to milder phenotypes. Patients with SUOX and MoCD gravitate toward 1 of 2 distinct clinicoradiographic profiles. Patient stratification may help promote accurate diagnosis, prognostication, and aid in the design of future clinical trials.
Identifiants
pubmed: 32802950
doi: 10.1212/NXG.0000000000000486
pii: NG2020013433
pmc: PMC7371372
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e486Informations de copyright
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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