Glucocerebrosidase deficiency

Holleran, W.M. et al., Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease, J. Clin. Invest., 93, 1756, 1994. 

Compound 61 is a glyco-asparagine of the oligomannoside type containing four Man residues that has been isolated58 59 from the urine of a patient with Gaucher s disease, a glucocerebrosidase deficiency.94... 

Doering T, Proia RL, Sandhoff K. Accumulation of protein-bound epidermal glucosylceramides in P-glucocerebrosidase deficient type 2 Gaucher mice. FEBS Lett. 1999 447 167-170. 

Gaucher s disease P-glucocerebrosIdase deficiency causes glucocerebrosides to accumulate... 

Barton, N. W., Brady, R. O., Dambrosia, J. M. et al. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher s disease. N. Engl. J. Med. 324 1464-1470,1991. 

Protalix (formerly Metabogal, Israel) began preclinical tests on enzyme therapy for Gaucher disease (GD), a genetically linked condition that affects the metabolism of people deficient in the enzyme y9-glucocerebrosidase. Without this enzyme, fatty deposits build up in the spleen, brain, liver, and bone marrow, and this leads to extreme pain and may even prove fatal. In 2000, the annual world-wide market for GD was US 620 milHon. 

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