HUMAN BETA-MANNOSIDASE DEFICIENCY ASSOCIATED WITH PERIPHERAL NEUROPATHY

Authors
LEVADE T GRABER D FLURIN V DELISLE MB PIERAGGI MT TESTUT MF CARRIERE JP SALVAYRE R
Citation
T. Levade et al., HUMAN BETA-MANNOSIDASE DEFICIENCY ASSOCIATED WITH PERIPHERAL NEUROPATHY, Annals of neurology, 35(1), 1994, pp. 116-119
Citations number
15
Categorie Soggetti
Clinical Neurology",Neurosciences
Journal title
Annals of neurology → ACNP
ISSN journal
03645134
Volume
35
Issue
1
Year of publication
1994
Pages
116 - 119
Database
ISI
SICI code
0364-5134(1994)35:1<116:HBDAWP>2.0.ZU;2-V
Abstract
Human beta-mannosidosis is an inherited lysosomal storage disorder des cribed in only seven families. We present a further case in a black Af rican 14-year-old boy with severely deficient beta-mannosidase activit y, bilateral thenar and hypothenar amyotrophy, electrophysiologically demonstrable demyelinating peripheral neuropathy, and cytoplasmic vacu olation of skin fibroblasts and lymphoid cells. The clinical and bioch emical features of our patient are compared to those of previously rep orted patients.