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