Re-Evaluation of Heterozygous Carriers of Mucopolysaccharidoses

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

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