Analysis of n-acetyl-β-d-glucosaminidase in mucolipidosis II (I-cell disease)

Kari Kveim Lie, George H. Thomas, Harold A. Taylor, Judith A. Sensenbrenner

Research output: Contribution to journalArticle

Abstract

Evidence is presented which indicates that the 15-fold increase in N-acetyl-β-d-glucosaminidase activity in the serum of a patient with mucolipidosis II (I-cell disease) resides in two enzyme forms having the electrophoretic characteristics of the bands normally seen in control serums. The increase, however, was most prominent (28 × normal) in the heat stable form (I2 or P) of the enzyme. In contrast, the decreased activity in the fibroblast cells from the same patient was found to be associated with multiple enzyme forms of N-acetyl-β-d-glucosaminidase clearly distinguishable from those normally seen in serum or fibroblast cells obtained from normal controls.

Original languageEnglish (US)
Pages (from-to)243-248
Number of pages6
JournalClinica Chimica Acta
Volume45
Issue number3
DOIs
StatePublished - May 18 1973

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

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