Elevated holo-transcobalamin in Gaucher disease type II: A case report

摘要

Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of beta-glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the most severe form), and III. Abnormalities in systemic markers of vitamin B-12 (B-12) metabolism have been reported in GD type I patients, suggesting a higher prevalence of B-12 deficiency in these patients. A 2-month-old male with GD type II was admitted to the hospital presenting jaundice, hepatosplenomegaly, and ichthyosis. At admission, cholestasis and ascites, abnormal liver function enzymes, prolonged prothrombin time, and high levels of B-12 were confirmed. Analysis of biomarkers of B-12 status revealed elevated B-12 and holo-transcobalamin (holo-TC) levels. The B-12 profile found in our patient is the opposite to what is described for GD type I patients. Holo-TC may increase in inflammatory states or due to liver diseases. In GD, the accumulation of glucocerebroside may be a trigger that initiates a systemic inflammatory reaction, characterized by macrophage activation. We suggest higher levels of holo-TC could be associated with a more severe (neuronopathic) GD, and be a biomarker of GD type II.