LESCH-NYHAN SYNDROME (X-LINKED RECESSIVE DISORDERS SERIES 1)
Hi Folks!! Follow our blog on Instagram LAB IN THE BOX Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioural abnormalities and the overproduction of uric acid. Uric acid accumulation can also cause kidney and bladder stones. The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals . This condition occurs with a similar frequency in all populations. SIGNS AND SYMPTOMS The symptoms of Lesch-Nyhan syndrome may become apparent as early as six months of age. Earlier urate crystal formation , resulting from abnormally increased uric acid levels in the urine, leads to the presence of orange-coloured deposits in the diapers of infants with this disorder. This may be the first manifestation of Lesch-Nyhan syndrome, but it is seldom recognized in early infancy. In older children with this disorder, deposits of sodium urate in cartilaginous tissues in joints and the ears; ...