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Currently, the only way to correct the enzyme deficiency permanently is liver transplant. Gene therapy is the hope of the future. Specifically, the genes for argininosuccinic synthetase and argininosuccinate lyase have been mapped to chromosomes 9 and 7, respectively.1Neurologic sequelae and survival depend on the length of the cheap uggs uk australia
hyperammonemic coma. If the coma is less than 2 days, there is a chance for minimal sequelae, but neurologic deficits usually occur when the coma is longer than 2 days. Since the onset of "rational treatment," the 1year survival rate for infants ahs been 92%.1,7 Many who survive may have neurologic sequelae: mental retardation, seizures, cortical atrophy and spastic quadriparesis. Later acute cheap uggs australia
episodes from protein intake or infection can result in further morbidity and death. Few patients with urea cycle defects live into adulthood.1Early diagnosis moncler mens wear
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the key to minimizing neurologic sequelae in infants presenting with hyperammonemia in general and more specifically in infants with urea cycle defects such as the patient presented in this transport casebook who proved to have argininosuccinic aciduria.