Дефіцит гіпоксантин-гуанінфосфорибозилтрансферази

Визначення(English summary)

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.