Human γ-Mannosidase Deficiency
- 6 November 1986
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 315 (19) , 1231
- https://doi.org/10.1056/nejm198611063151918
Abstract
To the Editor: β-Mannosidosis is a recently described inherited disorder of glycoprotein catabolism in goats.1 We would like to report a deficiency of acid β-mannosidase activity in plasma, leukocytes, and cultured skin fibroblasts from an Indian Hindu man with mental retardation, whose parents were not related.The patient was born at full term; the delivery was normal, with no neonatal complications. Walking and speech developed normally, but when the patient began to attend school at the age of five years, impaired intellectual development was observed. Clinical assessment at the age of 44 years revealed mental retardation, but there were no . . .Keywords
This publication has 3 references indexed in Scilit:
- β‐Mannosidase in human leukocytes and fibroblastsJournal of Inherited Metabolic Disease, 1984
- Structural studies of urinary oliogosaccharides from patients with mannosidosisArchives of Biochemistry and Biophysics, 1981
- Fractionation and characterization of acidic oligosaccharides and glycopeptides from normal and pathological urinesJournal of Chromatography B: Biomedical Sciences and Applications, 1977