Abstract
A deficiency of β-galactosidase (pH 5.0) was found in frozen tissues (brain, liver, kidney and spleen) from 10 patients with Hurler's syndrome (Types 1–3). The diminished activity of this enzyme was demonstrated with the use of nitrophenyl-galactosides as well as ganglioside GM1 and a "keratan sulfate-like" mucopolysaccharide. Mixing experiments demonstrated that soluble endogenous inhibitors are not responsible for the lowered β-galactosidase activity. Activities of related hydrolases, including acid phosphatase, α-glucosidase, β-glucosidase, β-xylosidase, β-N-acetyl-galactosaminidase, β-N-acetyl-glucosaminidase, α-mannosidase, β-glucuronidase and cathepsins A-D, were increased two to five times. Deficiency of β-galactosidase may prove to be the primary enzymic defect in the Hurler syndrome.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
