Establishment and Validation of a Clinical Severity Scoring System for Succinic Semialdehyde Dehydrogenase Deficiency.

The SSADHD CSS is validated using objective measures and offers a reliable condition-specific instrument universally applicable in clinical settings. This severity score may be utilized for family and patient counseling, genotype-phenotype correlations, biomarker development, clinical trials, and objective descriptions of the natural history of SSADHD. This article is protected by copyright. All rights reserved.