TY - JOUR
T1 - Elevated holo-transcobalamin in Gaucher disease type II
T2 - A case report
AU - Basgalupp, Suelen Porto
AU - Donis, Karina Carvalho
AU - Siebert, Marina
AU - e Vairo, Filippo Pinto
AU - Artigalas, Osvaldo
AU - de Camargo Pinto, Louise L.
AU - Behringer, Sidney
AU - Spiekerkoetter, Ute
AU - Hannibal, Luciana
AU - Schwartz, Ida Vanessa D.
N1 - Funding Information:
University of Freiburg; German Research Foundation (DFG) Funding information 12 12
Funding Information:
Suelen Porto Basgalupp wishes to thank the Laboratory of Clinical Biochemistry and Metabolism, Department of Pediatrics, University Medical Center Freiburg, Freiburg, Germany, for contribution to development of this study. The authors would like to thank Dr Renata Barreto Tenório for the diagnosis and follow‐up of the patient included in this study. The article processing charge was funded by the German Research Foundation (DFG) and the University of Freiburg in the funding program Open Access Publishing.
Funding Information:
Suelen Porto Basgalupp wishes to thank the Laboratory of Clinical Biochemistry and Metabolism, Department of Pediatrics, University Medical Center Freiburg, Freiburg, Germany, for contribution to development of this study. The authors would like to thank Dr Renata Barreto Ten?rio for the diagnosis and follow-up of the patient included in this study. The article processing charge was funded by the German Research Foundation (DFG) and the University of Freiburg in the funding program Open Access Publishing. Open access funding enabled and organized by Projekt DEAL.
Publisher Copyright:
© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2021/8
Y1 - 2021/8
N2 - 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.
AB - 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.
KW - Gaucher disease type II
KW - biomarker
KW - holo-TC
KW - macrophage
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U2 - 10.1002/ajmg.a.62252
DO - 10.1002/ajmg.a.62252
M3 - Article
C2 - 34031990
AN - SCOPUS:85106302497
SN - 1552-4825
VL - 185
SP - 2471
EP - 2476
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -