Volume 47, Issue 7 pp. 1092-1095

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Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies

Geraldine A. McDowell,

Geraldine A. McDowell

Human Genetics Branch, National Institutes of Child Health and Human Development, NIH, Rockville

Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland

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Tina M. Cowan,

Tina M. Cowan

Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland

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Miriam G. Blitzer,

Miriam G. Blitzer

Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland

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Dr. Carol L. Greene,

Corresponding Author

Dr. Carol L. Greene

The Children's Hospital, University of Colorado Health Science Center, Denver, Colorado

The Children's Hospital/IMD Clinic University of Colorado Health Science Center, 1056 East 19th Avenue, Box B153, Denver, CO 80218Search for more papers by this author

Geraldine A. McDowell,

Geraldine A. McDowell

Human Genetics Branch, National Institutes of Child Health and Human Development, NIH, Rockville

Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland

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Tina M. Cowan,

Tina M. Cowan

Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland

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Miriam G. Blitzer,

Miriam G. Blitzer

Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland

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Dr. Carol L. Greene,

Corresponding Author

Dr. Carol L. Greene

The Children's Hospital, University of Colorado Health Science Center, Denver, Colorado

The Children's Hospital/IMD Clinic University of Colorado Health Science Center, 1056 East 19th Avenue, Box B153, Denver, CO 80218Search for more papers by this author

First published: 15 November 1993

https://doi.org/10.1002/ajmg.1320470732

Citations: 8

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Abstract

Intrafamilial variability has not been reported previously in Hurler syndrome or Sanfilippo syndrome type A. We describe two families in which sibs with comparable deficiencies of α-iduronidase (Hurler) or sulfamidase (Sanfilippo type A) activities in vitro nonetheless have divergence in clinical severity and disease progression. These cases underscore the need for caution in counseling as well as the limitations of using sibs as controls in evaluating the outcome of treatment. © 1993 Wiley-Liss, Inc.

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Volume47, Issue7

15 November 1993

Pages 1092-1095

Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies

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Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies

Abstract

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