Enzyme replacement therapy has become the treatment of choice for amelioration of the visceral signs and symptoms of Gaucher disease. We present our experience, in 13 children with severe type I and type III disease who initiated therapy at the low-dose high-frequency regimen (30 units/kg) of alglucerase (Ceredase, Genzyme Inc., USA) before the age of 10 years. All these children manifested moderate to severe visceral involvement before the age of 5 years; all but one had genotypes other than 1226G/1226G; only one evinced bone pain, and one of the two type III children had severe lung involvement.

The mean values of hematological parameters and reduction of organomegaly (Table) was satisfactory and accompanied by an increase in height and weight. Yet we noted a plateau effect in 6 of these children at 6 to 12 months, which eventually resulted in increased doses.

Table 1
Full size table

We conclude that although low-dose enzyme replacement therapy is appropriate for many children, especially those with relative milder manifestations at presentation, there is a subset of severely afflicted very young children, particularly those with type III, in whom we would recommend increasing the dosage if growth and organ parameters are not dramatic and sustained after the first 12 months of treatment.