lesch-nyhan syndrome…

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lesch-nyhan syndrome, inheritable disorder, how the body builds, breaks down purines, purines, units in rna, dna, make up the body's genetic blueprint, lesch-nyhan syndrome is inherited, an x-linked trait, disease is seen mainly in males, characterized by increased blood, uric acid levels, by the absence, the enzyme hypoxanthine guanine phosphoribosyltransferase, hgp, males, lesch-nyhan have delayed motor development followed by bizarre, sinuous movements, increased deep tendon reflexes, a striking feature of lesch-nyhan syndrome is self-destructive behavior characterized by chewing off fingertips, lips, not restrained, excess uric acid levels cause children to develop gout-like swelling, of joints, renal dysfunction develops, the excess uric acid levels, family history of lesch-nyhan syndrome, male infant, delayed motor development, movement disorder, destructive chewing of fingers, lips, self-destructive behavior, a physical examination, testing, hyperreflexia, spasticity, choreoathetoid movements, compulsive self-destructive behavior, increased serum uric acid, increase excretion of uric acid, urine, decreased hgp levels in cultured fibroblasts, serum chemistry, uric acid, urine chemistry, uric acid, skin biopsy tissue culture, fibroblasts, no specific treatment exists, lesch-nyhan syndrome, allopurinol has been tried, it decreases the uric acid concentrations, does not improve the neurological outcome, symptoms relieved, the drugs carbidopa/levodopa, diazepam, phenobarbital, haloperidol, recent advances in recombinant dna techniques have allowed the gene responsible, the production of hgp to be cloned, attempts, in the future to insert this gene into a patient's genetic material, correct the metabolic defect, outcome is likely to be poor, attempts to treat the condition, severe, progressive disability is likely, call health care provider, signs of this illness appear in child, history of lesch-nyhan syndrome in family, , genetic counseling, prospective parents, a family history of lesch-nyhan syndrome, carrier state, the mother determined by culture of skin fibroblasts, half the fibroblasts, have normal levels, the hgp enzyme, remaining half, have deficient, absent hgp.