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

Suelen Porto Basgalupp, Karina Carvalho Donis, Marina Siebert, Filippo Pinto e Vairo, Osvaldo Artigalas, Louise L. de Camargo Pinto, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa D. Schwartz

Research output: Contribution to journalArticlepeer-review


Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β-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 B12 (B12) metabolism have been reported in GD type I patients, suggesting a higher prevalence of B12 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 B12 were confirmed. Analysis of biomarkers of B12 status revealed elevated B12 and holo-transcobalamin (holo-TC) levels. The B12 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.

Original languageEnglish (US)
Pages (from-to)2471-2476
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
StatePublished - Aug 2021


  • Gaucher disease type II
  • biomarker
  • holo-TC
  • macrophage

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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