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PubMed · 15604603

Inherited hyperuricemic disorders.

William L Nyhan
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Abstract

Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrophosphate synthetase and deficiency of glucose-6-phosphatase. The undersecretion disorders are autosomal dominantly inherited and are heterogeneous. A major number of these patients result from mutations in the gene that codes for uromodulin. Treatment is with allopurinol.

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Glycogen Storage DiseaseHumansHyperuricemiaHypoxanthine PhosphoribosyltransferaseKidney TubulesLesch-Nyhan SyndromePurinesRibose-Phosphate PyrophosphokinaseJournal ArticleReview

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William L Nyhan. 2005. Inherited hyperuricemic disorders.. https://doi.org/10.1159/000082539

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