Ontology highlight
ABSTRACT:
SUBMITTER: Tewari N
PROVIDER: S-EPMC5359358 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Tewari Nitesh N Mathur Vijay Prakash VP Sardana Divesh D Bansal Kalpana K
Intractable & rare diseases research 20170201 1
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, <i>i.e.</i> signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic testing, confirms the diagnosis of LNS. With a level of hypoxanthine guanine phosphoribosyl-transferase 1 (HPRT1) enzyme activity < 2%, patients develop neurological, neurocognitive, and neuromotor sym ...[more]