Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.

ABSTRACT:

Background

Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.

Methods

A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.

Results

The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of th

SUBMITTER: Ortigoza-Escobar JD 

PROVIDER: S-EPMC10558026 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature