Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

ABSTRACT:

Objective

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.

Methods

We analyzed clinical, radiographic, biochemical, and genetic data from 146 patients reported in the literature.

Results

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 gangl

SUBMITTER: Misko AL 

PROVIDER: S-EPMC7371372 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature