Type I mucopolysaccharidosis was diagnosed in a fetus by assay of the glycosaminoglycans of the amniotic liquor. Results are presented of biochemical and ultrastructural studies on the 18-week abortus. The evidence suggests that the liver is more severely affected than the central nervous system at this stage of gestation, and this finding agrees with the recent demonstration of the underlying enzyme defect of this disorder, with the corollary that many biochemical abnormalities previously noted in gargoylism must be pleiotropic effects of the mutant genotype.
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