Lesch Nyhan Syndrome
Abstract
Abstract: Lesch Nyhan syndrome (LNS) is a rare genetic disorder at the chromosome point Xq26-q27.2.
This disease occurs almost exclusively in male children at a very young age and caused by mutations in the
hypoxanthine-guanine phosphoribosyl transferase (HPRT) gene and is inherited in an X-linked recessive
manner. The clinical manifestations are associated with the hypoxanthine-guanine phosphoribosyl transferase
(HPRT) enzyme deficiency. The symptoms of LNS may become apparent as early as six months of age. The
first clinical manifestation of LNS is earlier urate crystal formation, resulting from abnormally elevated levels
of uric acid in the urine, leads to the presence of orange colored deposits in the diapers of affected infants.
Self-mutilation, mental retardation, self injurious behavior, gouty arthritis, hemiplegia and kidney stones may
commonly occur in later stages. LNS is diagnosed by hyperuricemia, macrocytic anaemia, HPRT enzyme activity,
identification of a molecular genetic mutation in the HPRT gene, imaging studies of the brain and spinal cord,
ultrasound imaging of the urinary tract and slightly delayed bone age. Although treatment of the condition is
limited; management of symptoms is effective for most individuals for surviving into the second or third decade
of life. Hence there may be slow progression of disease in adulthood; sudden death may highly occur with
respiratory abnormalities.
My review may provide the latest clinical information and findings of Lesch Nyhan syndrome. Since this disease
is rare in the society, researches and information sources are also limited. But this information provide here may help to find some interesting pathways for new research and findings on LNS.
