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Human β‐mannosidase deficiency associated with peripheral neuropathy
Author(s) -
Levade T.,
Graber D.,
Flurin V.,
Delisle MB.,
Pieraggi MT.,
Testut MF.,
Carrière JP.,
Salvayre R.
Publication year - 1994
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410350119
Subject(s) - peripheral neuropathy , mannosidase , medicine , biology , diabetes mellitus , endocrinology , genetics , glycoprotein
Human β‐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 β‐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.