Fibroblast phosphodiesterase deficiency in Niemann-Pick disease

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Abstract

Cultured skin fibroblasts from patients with Niemann-Pick disease types A and B were found to have diminished activity towards the synthetic substrates bis(4-methylumbelliferyl) pyrophosphate diester and bis(4-methylumbelliferyl) phosphate. Fibroblasts from a patient with Niemann-Pick disease type C exhibited less diminished activity. No reduction in activity was found towards bis(p-nitrophenyl) phosphate in types A, B or C fibroblasts. Maximum deficiency in types A and B fibroblasts was towards bis(4-methylumbelliferyl) pyrophosphate diester at pH 5.0, no deficiency being found at pH 7.2, either in the presence or absence of Mg++ and cysteine.

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