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Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the Fetus
  1. M. d'A. Crawfurd,
  2. M. F. Dean,
  3. D. M. Hunt*,
  4. D. R. Johnson,
  5. R. R. MacDonald,
  6. H. Muir,
  7. E. A. Payling Wright†,
  8. C. R. Payling Wright†
  1. Department of Genetics, University of Leeds, London
  2. Department of Obstetrics and Gynaecology, University of Leeds, London
  3. Department of Animal Genetics, University College London, London
  4. Department of Human Genetics, University College London, London
  5. The Kennedy Institute of Rheumatology, London

    Abstract

    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.

    https://doi.org/10.1136/jmg.10.2.144

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      Footnotes

      • ↵* Present address: Institute of Genetics, Church Street, Glasgow W1.

      • ↵† Present address: Department of Biochemistry, Baylor College of Medicine, Texas Medical Center, Houston, Texas 77025, USA.