Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme.
A marked deficiency of a specific thermolabile beta-galactosidase isoenzyme (pH optimum 3 to 5) was found in liver and kidney tissues of five patients with the Hurler's syndrome (types 1 to 3).
D004586:Electrophoresis; D005696:Galactosidases / Q000032:analysis*; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007527:Isoenzymes / Q000032:analysis*; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008059:Mucopolysaccharidosis I / Q000145:classification / Q000201:enzymology*
D007527:Isoenzymes; D005696:Galactosidases