Features include always present findings: Hyperglycinemia and Reduced tissue glycine cleavage enzyme activity; and very common findings: Progressive spasticity and Nonketotic hyperglycinemia. 36 total HPO annotations.

GLRX5 encodes glutaredoxin 5 (157 aa). Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer. Highest expression in Testis (65.0 TPM) and Adrenal Gland (55.8 TPM).

Spasticity-ataxia-gait anomalies syndrome is associated with mutations in the GLRX5 gene on chromosome 14.

The GLRX5 protein participates in Formation of 4Fe-4S cluster on ISCA1:ISCA2, FXN:NFS1:ISD11:ISCU assembles 2Fe-2S iron-sulfur cluster, and Mitochondrial iron-sulfur cluster biogenesis pathways.

GLRX5 is classified as a druggable target with score 0.0.

Genetic testing for GLRX5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spasticity-ataxia-gait anomalies syndrome has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 2 very common features, 16 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

200 publications have been identified in PubMed for spasticity-ataxia-gait anomalies syndrome. Kisho has analyzed 151 by research type. Research spans Review / Meta-Analysis (49%), Case Report / Case Series (21%), and Basic Science / Preclinical (11%).