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Elevated holo-transcobalamin in Gaucher disease type II: A case report
Suelen Porto Basgalupp1,2,3, Karina Carvalho Donis4, Marina Siebert2,5
1Postgraduate Program in Medical Sciences, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
American Journal of Medical Genetics. Part A
|May 25, 2021
Summary
Gaucher disease type II, a severe lysosomal disorder, presents unique vitamin B12 (B12) metabolism findings. Elevated B12 and holo-transcobalamin (holo-TC) levels may indicate a more severe neuronopathic form of Gaucher disease.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Gaucher disease (GD) is a common lysosomal storage disorder due to β-glucocerebrosidase deficiency.
- GD classification includes types I, II, and III, distinguished by neurological involvement severity.
- Previous studies noted vitamin B12 (B12) metabolism abnormalities in GD type I, suggesting B12 deficiency.
Observation:
- A 2-month-old male with GD type II presented with jaundice, hepatosplenomegaly, and ichthyosis.
- Clinical findings included cholestasis, ascites, abnormal liver function, prolonged prothrombin time, and elevated B12 levels.
- Biomarker analysis revealed elevated B12 and holo-transcobalamin (holo-TC) levels.
Findings:
- The patient's B12 profile (elevated B12 and holo-TC) contrasts with GD type I findings.
- Elevated holo-TC can be linked to inflammatory states or liver disease.
- Glucocerebroside accumulation in GD may trigger systemic inflammation via macrophage activation.
Implications:
- Higher holo-TC levels might be associated with severe, neuronopathic Gaucher disease.
- Holo-TC elevation could serve as a potential biomarker for GD type II.
- Understanding B12 metabolism in GD may offer insights into disease mechanisms and severity.
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