Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Activity in Normal, Mutant, and Heterozygote-Cultured Human Skin Fibroblasts

AUTOR(ES)

Fujimoto, Wilfred Y.

RESUMO

Cultured skin fibroblasts from patients deficient for the enzyme hypoxanthine-guanine phosphoribosyltransferase (PRT) activity show very low but nevertheless significant levels of apparent PRT enzyme despite absence of detectable activity (<0.004% of normal) in erythrocytes of the same patients. In fibroblasts this mutant enzyme is more heat labile than the normal enzyme. These findings indicate that PRT deficiency in this disorder is not due to a deletion mutation of the PRT locus.

Documentos Relacionados

• Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Chemical Agents Selective for Mutant or Normal Cultured Fibroblasts in Mixed and Heterozygote Cultures
• Overproduction of Uric Acid in Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: CONTRIBUTION BY IMPAIRED PURINE SALVAGE
• Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency
• A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
• Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.