Abstract
HGPRT deficiency is inherited in a chromosome X-linked recessive manner (1). Most of heterozygous females are asymtomatic and have normal serum urate concentrations (2). Moreover, HGPRT activity in hemolysate from HGPRT deficient carrier females is usually in the normal range (3). A number of methodologies have been designed for carrier testing in HGPRT deficient families, HGPRT activity in hair follicles, selective medium cultured skin fibroblasts and genetic analysis, being the most widely used. The purpose of this study was to review our experience with carrier diagnoses in 14 Spanish families with HGPRT deficiency by means of enzymatic and genetic tests.
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