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Horm Metab Res 1969; 1(2): 78-79
DOI: 10.1055/s-0028-1095156
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© Georg Thieme Verlag KG Stuttgart · New York

Re-Evaluation of Heterozygous Carriers of Mucopolysaccharidoses[*]

W. M. Teller , Ch.  Busch , H. H. Bode
  • Department of Pediatrics, University of Heidelberg, Germany
    Department of Pediatrics, University of Marburg/Lahn, Germany
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Publikationsdatum:
08. Januar 2009 (online)

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Abstract

Urinary acid glycosaminoglycans (AMPS) from 10 families with children suffering from mucopolysaccharidoses (MP) have been fractionated by column chromatography. Ginically healthy heterozygous carriers revealed pathological AMPS patterns comparable to the ones from their diseased homozygous relatives. The total urinary AMPS excretion in heterozygotes was within normal limits. The findings were most consistent in heterozygous carriers of MP type I (Hurler) and type III (Sanfilippo), while families with MP II (Hunter) showed some erratic results.

Key words

Urinary Acid Glycosaminoglycans - Column Chromatography - Mucopolysaccharidoses - MP Type Hurler - MP Type Hunter - MP Type Sanfilippo

1 Supported by a grant from the Deutsche Forschungsgemeinschaft, Bad Godesberg, Germany

1 Supported by a grant from the Deutsche Forschungsgemeinschaft, Bad Godesberg, Germany