DEMONSTRATION OF THE HETEROZYGOUS STATE FOR I-CELL DISEASE AND PSEUDO-HURLER POLYDYSTROPHY BY ASSAY OF N-ACETYLGLUCOSAMINYLPHOSPHOTRANSFERASE IN WHITE BLOOD-CELLS AND FIBROBLASTS
- 1 January 1982
- journal article
- research article
- Vol. 34 (5) , 717-729
Abstract
The biochemical abnormalities of I-cell disease (mucolipidosis II) and pseudo-Hurler polydystrophy (mucolipidosis III) can be explained by a deficiency of the enzyme UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. Obligate heterozygotes for these autosomal recessive diseases have intermediate levels of this enzymatic activity in homogenates of peripheral blood white cells and in extracts from cultured fibroblasts. The enzyme deficiency is the primary genetic defect in these disease. Obligate heterozygotes for mucolipidosis III have elevations of total serum .beta.-hexosaminidase outside the range of normal. In 3 pedigrees of patients with mucolipidosis III, these techniques were used to score individuals at risk for the carrier state.This publication has 28 references indexed in Scilit:
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