Table 2 Gaucher disease: summary of the metabolic abnormalities described in treated and untreated patients

Corssmit et al. 1995 [23]

The Netherlands

7 untreated patients and 7 healthy controls

Assessing the metabolism of glucose and fatty acids

After continuous infusion of [3-³H] glucose, basal glucose production was approximately 30% higher in patients than in controls, while insulin concentration was also slightly higher in patients. The differences in basal glucose production were not associated with the concentration of plasma insulin or other glucoregulatory hormones.

Hollak et al. 1997 [24]

The Netherlands

7 pre- and post-ERT patients and 7 healthy controls

Evaluating the effect of ERT on the clinical and metabolic parameters

Continuation of Corssmit’s study and reassessment of parameters after 6 months of ERT. Increased basal glucose production persisted even with the use of ERT. Patients gained weight in this period.

Langeveld et al. 2007 [25]

The Netherlands

26 pre- and post-ERT patients and 26 healthy controls

Comparing serum adiponectin before and during treatment

GD disease patients showed reduced levels of adiponectin. There was no correlation between the levels of adiponectin, glucose, and insulin. After ERT, the levels of adiponectin increased, but remained below those of the controls.

Langeveld et al. 2008 [26]

The Netherlands

6 patients (3 on ERT and 3 untreated) and 6 healthy controls

Studying the influence of glycosphingolipids storage in the metabolism of glucose and fatty acids.

At basal state, the levels of glucosylceramide and ganglioside GM3 in plasma were higher in patients than in controls. IMGU was lower in patients (n=5) than in controls. The suppression of lipolysis by insulin was observed to be less effective in patients with GD.

Groener et al. 2008 [7]

The Netherlands

Baseline: 27 patients, 15 pre- and post-treatment (13 in ERT and 2 in SRT) and 16 control subjects

Determining the levels of glucosylceramide and ceramide

At basal state, 27 patients were compared with 16 controls and showed glucosylceramide levels greater than three times that of the controls, while the ceramide levels were observed to be slightly lower. Regarding the basal state, patients showed a significant decrease in glucosylceramide levels and a slight increase in ceramide levels A partial normalization of glucosylceramide levels was observed over 72 months.

Ghauharali- van der Vlugt et al. 2008 [27]

The Netherlands

40 treated patients and 30 healthy controls

Determining ganglioside GM3 in plasma

Glucosylceramide and ganglioside GM3 concentrations in plasma were significantly higher than those observed in the controls. Also, the concentrations found for splenectomised patients were higher than those of non-splenectomised patients. In comparison with non-splenectomised patients, the referred concentrations were higher in splenectomised patients. Plasma concentrations of ganglioside GM3 have significantly correlated with plasma chitotriosidase activity, the severity of the disease and hepatomegaly.

Ucar et al. 2009 [9]

Turkey

14 patients undergoing ERT (not overweight) and 14 healthy controls

Assessing insulin resistance in ERT patients (not overweight).

One patient had insulin resistance. The difference between the median glucose of patients (114±5 mg/dL) and that of the post-load controls (103±15.7 mg/dL) was significant. Insulin levels were significantly higher in patients than in controls. Triglycerides and fatty acids were also higher in patients with GD. High insulin levels were positively correlated with free fatty acids, triglycerides, and severity score.