Hypoxanthine Accumulation and Dopamine Depletion in Lesch-Nyhan Disease
According to the postulates of Garrod3, it should be possible to understand all of the pathophysiological consequences of an inborn error of metabolism within the context of metabolite changes secondary to the primary lesion. Thus in untreated phenylketonuria, growth retardation is thought to be a consequence of imbalances in the relative concentrations of specific amino acids and hypopigmentation is thought to result from deficiency of tyrosine, the immediate precursor of melanin7. In Lesch-Nyhan disease, gout is readily attributed to elevated uric acid and xanthine, as is nephrotoxicity in untreated cases14. There is substantial understanding, at the metabolic level, of the relationship between blocked purine salvage and aspermiogenesis17.
KeywordsUric Acid Caudate Nucleus Dopamine Depletion Treated Side Left Lateral Ventricle
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