Article

Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome

  1. Dr. Atsuko Fujimoto1,*,
  2. Allen L. Horwitz2,
  3. John M. Opitz Editor

Article first published online: 3 JUN 2005

DOI: 10.1002/ajmg.1320150210

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 15, Issue 2, pages 265–273, June 1983

Additional Information

How to Cite

Fujimoto, A., Horwitz, A. L. and Opitz, J. M. (1983), Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome. Am. J. Med. Genet., 15: 265–273. doi: 10.1002/ajmg.1320150210

Author Information

  1. 1

    Genetics Division, Department of Pediatrics, Los Angeles County-University of Southern California Medical Center and University of Southern California School of Medicine, Los Angeles

  2. 2

    Department of Pediatrics and Joseph P. Kennedy Mental Retardation Center, University of Chicago

*1G-24, Genetics Division, LAC-USC Medical Center, 1129 North State Street, Los Angeles, CA 90033

Publication History

  1. Issue published online: 3 JUN 2005
  2. Article first published online: 3 JUN 2005
  3. Manuscript Revised: 13 DEC 1982
  4. Manuscript Received: 23 SEP 1982

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Keywords:

  • Morquio syndrome;
  • non-keratan-sulfate-excreting Morquio syndrome;
  • galactosamine-6-sulfate sulfatase;
  • keratan sulfate;
  • chondroitin-6-sulfate;
  • mucopolysaccharidosis;
  • mucopolysaccharides;
  • autosomal recessive inheritance

Abstract

Two children of second-cousin parents were found to have a very mild form of Morquio syndrome. The 14-year-old boy was 147 cm tall and had fine corneal deposits, a broad chest, dislocated hips, and flat feet. His 7-year-old sister had a broad chest but otherwise normal physical development. An abnormal lumbar spine was seen in radiographs of both children. Analysis of the urine from the affected children showed levels of acid mucopolysaccharides (AMPS) up to twice as high as that found in normal urine, but no evidence of keratosulfaturia. Most urinary AMPS was chondroitin-6-sulfate. Multiple assays of N-acetylgalactos-amine-6-sulfate (GalNAc-6-SO4) sulfatase in leukocytes and cultured skin fibroblasts showed deficiency of this enzyme in the range found in the classical form of Morquio (Morquio A) syndrome. This report identifies an enzymatic defect in one form of non-keratan-sulfate-excreting Morquio (NKSE Morquio) syndrome and confirms the absence of keratosulfaturia in this mild form of Morquio disease.

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