Table III.

Clinical and laboratory characteristics at diagnosis of 3 patients with mutations in GBE1 gene

Patient	Clinical presentation	Laboratory abnormalities
1	Severe course: hepato-splenomegaly, neurological involvement, liver failure with cholestasis	Elevated serum: – Liver enzymes – Chitotriosidase (5000 nmol/ml · h) – Lipids – Lactate cholestasis, coagulative impairment
2	Hepatomegaly without enlarged spleen and no impairment of liver function	Hypertransaminasemia Elevate CK, chitotriosidase (317–613 nmol/ml/h)
3	Cardiological presentation: dilated cardiomyopathy and mild arrhythmia	No specific laboratory abnormalities