[P1-200] Two Chinese boys with Lesch-Nyhan syndrome and novel mutations in HRPT1 Gene
[Objective] Lesch-Nyhan syndrome is an X-linked recessive disorder caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), which is essential to purine metabolism. Till now, only a few cases have been reported in mainland China. In this study, the clinical, biochemical, and genetic features of two Chinese boys were investigated. [Methods] Two boys from two unrelated Chinese families were hospitalized due to psychomotor retardation. [Results] Both of the two patients had been misdiagnosed of spastic cerebral palsy until hyperuricemia was noticed. They had severe self-biting behavior after the age of 1 year. A large fragment deletion and a novel mutation (c.609+5G>A) on the HPRT gene were detected from each of the two patients. After the treatment by allopurinol, benzhexol hydrochloride, sodium bicarbonate and L-carnitine, improved clinical symptoms were observed. [Conclusions] Lesch-Nyhan syndrome is a rare disorder characterized by psychomotor retardation, self-biting behavior and hyperuricemia. Serum uric acid determination and gene study are keys for the diagnosis. Although no specific medical treatment is available now, genetic diagnosis is important for the prenatal test of the disease.
The firsrt two authers contributed equally to this paper.
The firsrt two authers contributed equally to this paper.