Human beta-mannosidase deficiency associated with peripheral neuropathy

T Levade; D Graber; V Flurin; M B Delisle; M T Pieraggi; M F Testut; J P Carrière; R Salvayre

doi:10.1002/ana.410350119

Human beta-mannosidase deficiency associated with peripheral neuropathy

Ann Neurol. 1994 Jan;35(1):116-9. doi: 10.1002/ana.410350119.

Authors

T Levade¹, D Graber, V Flurin, M B Delisle, M T Pieraggi, M F Testut, J P Carrière, R Salvayre

Affiliation

¹ Laboratoire de Biochimie, Maladies Métaboliques, C.H.U. Rangueil, Toulouse, France.

PMID: 8285582
DOI: 10.1002/ana.410350119

Abstract

Human beta-mannosidosis is an inherited lysosomal storage disorder described in only seven families. We present a further case in a black African 14-year-old boy with severely deficient beta-mannosidase activity, bilateral thenar and hypothenar amyotrophy, electrophysiologically demonstrable demyelinating peripheral neuropathy, and cytoplasmic vacuolation of skin fibroblasts and lymphoid cells. The clinical and biochemical features of our patient are compared to those of previously reported patients.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Adolescent
Electrophysiology
Humans
Male
Mannosidases / deficiency*
Microscopy, Electron
Peripheral Nervous System Diseases / enzymology*
Peripheral Nervous System Diseases / pathology
Peripheral Nervous System Diseases / physiopathology
Skin / ultrastructure
alpha-Mannosidosis / complications*
alpha-Mannosidosis / pathology
alpha-Mannosidosis / physiopathology
beta-Mannosidase

Substances

Mannosidases
beta-Mannosidase