Elevation of serum β-hexosaminidase and α-d-mannosidase in type 2 gaucher disease: a clinical and biochemical study

D. Chitayat, S. Nakagawa, Robert W. Marion, G. S. Sachs, Shlomo Shinnar, J. F. Llena, H. M. Nitowsky

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Abstract

We report a case of a black infant who died at 9 months of age with clinical and pathological findings consistent with the acute neuronopathic form of Gaucher disease (Type 2). Analysis of peripheral blood platelets obtained from this child demonstrated very low levels of β-glucosidase activity. β-hexosaminidase (HEX) activity in the serum, however, was 30 times greater than the level in control sera and 15 times greater than the level observed in individuals affected with the chronic form of Gaucher disease (Type 1). Similarly, α-d-mannosidase (MANN) activity in the proband's serum was significantly elevated when compared with controls, and chronic Gaucher disease patients. We postulate that the cause of the elevation of these lysosomal enzymes is similar to the cause of elevation in Type 1 individuals but that patients with Type 2 Gaucher disease have a more serious cellular defect.

Original languageEnglish (US)
Pages (from-to)111-114
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume10
Issue number2
DOIs
StatePublished - Jun 1987

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Mannosidases
Hexosaminidases
Gaucher Disease
Serum
Glucosidases
Blood Platelets
Clinical Studies
Enzymes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Elevation of serum β-hexosaminidase and α-d-mannosidase in type 2 gaucher disease : a clinical and biochemical study. / Chitayat, D.; Nakagawa, S.; Marion, Robert W.; Sachs, G. S.; Shinnar, Shlomo; Llena, J. F.; Nitowsky, H. M.

In: Journal of Inherited Metabolic Disease, Vol. 10, No. 2, 06.1987, p. 111-114.

Research output: Contribution to journalArticle

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AU - Marion, Robert W.

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