Catalog

Kelley-Seegmiller syndrome

No MMS code

Link to WHO Definition

Kelley-Seegmiller syndrome – http://id.who.int/icd/entity/1094084865

Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout.