Universität zu Köln

Misko, Albert L., Liang, Ye, Kohl, Joshua B. and Eichler, Florian (2020). Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol.-Genet., 6 (4). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

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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 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. Conclusions 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Misko, Albert L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Liang, Ye UNSPECIFIED UNSPECIFIED UNSPECIFIED Kohl, Joshua B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Eichler, Florian UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-324165
DOI:	10.1212/NXG.0000000000000486
Journal or Publication Title:	Neurol.-Genet.
Volume:	6
Number:	4
Date:	2020
Publisher:	LIPPINCOTT WILLIAMS & WILKINS
Place of Publication:	PHILADELPHIA
ISSN:	2376-7839
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CRYSTAL-STRUCTURE; MOLYBDOPTERIN SYNTHASE; MUTATIONS; IDENTIFICATION; GEPHYRIN; INSIGHTS; FEATURES; PATIENT; FORM Multiple languages Genetics & Heredity; Clinical Neurology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/32416