Uncovering Proteomic and Biochemical Alterations in Plasma from Lesch-Nyhan Disease Patients.

ABSTRACT: Lesch-Nyhan disease (LND) is an ultra-rare X-linked inborn error of metabolism caused by complete or partial deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), a key enzyme in the purine salvage pathway. This defect leads to uric acid overproduction and a broad spectrum of neurological and behavioral manifestations, whose severity depends on the degree of residual enzymatic activity. Although emerging evidence implicates HPRT deficiency in widespread cellular dysfunctions, particularly within midbrain dopaminergic neurons, the molecular mechanisms underlying the neurobehavioral phenotype of HPRT deficiency remain poorly understood and are not adequately explained by purine metabolism dysfunctions alone. Although proteomics represents a powerful approach for elucidating mo

SUBMITTER: Javed S 

PROVIDER: S-EPMC12804513 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature