β-d-Galactosidase in human urine: Deficiency in generalized gangliosidosis

George H. Thomas

Research output: Contribution to journalArticle

Abstract

The details of a colorimetric method for the measurement of both β-d-galactosidase and N-acetyl-β-d-glucosaminidase activities in human urine are described. A study of a large number of both "normal and mentally retarded" individuals indicates that these 2 enzymes are present in high, but variable, concentrations in fresh urine samples from both groups. In contrast, the urine of a patient with generalized gangliosidosis was found repeatedly to have very low levels of the β-d-galactosidase while having very high levels of the N-acetyl-β-d-glucosaminidase. By relating the 2 enzyme levels as a ratio of N-acetyl-β-d-glucosaminidase to β-d-galactosidase, it was possible to distinguish clearly the patient with generalized gangliosidosis from the control group.

Original languageEnglish (US)
Pages (from-to)725-731
Number of pages7
JournalThe Journal of laboratory and clinical medicine
Volume74
Issue number5
StatePublished - Nov 1 1969

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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