A MANBAmutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant

Table 1 β-Mannosidase activity in the family.

β-Mannosidase activity was determined in peripheral blood leukocytes, Epstein-Barr virus-transformed lymphoid cells and plasma from family members (see Figure 1A). Enzyme activity is expressed as nmol/h.mg of protein (for cells) or nmol/h.ml (for plasma). For patients, the different values correspond to independent experiments; for controls, means ± SEM of the indicated number of different samples. ND, not determined.

ISSN: 1471-2350