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

Journal: American journal of medical genetics. Part A 2022;185(8):2471-2476

PMID: 34031990

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Abstract

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 B (B ) metabolism have been reported in GD type I patients, suggesting a higher prevalence of B 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 were confirmed. Analysis of biomarkers of B status revealed elevated B and holo-transcobalamin (holo-TC) levels. The B 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.

Address: Postgraduate Program in Medical Sciences, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Hospital Moinhos de Vento, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Unit of Laboratorial Research, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Hospital da Criança Conceição, Grupo Hospitalar Conceição (GHC), Porto Alegre, Brazil.; Hospital Infantil Joana de Gusmão, Florianópolis, Brazil.; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Germany.; Postgraduate Program in Medical Sciences, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

DOI: 10.1002/ajmg.a.62252

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MeSH Terms: Biomarkers, Gaucher Disease, Glucosylceramidase, Humans, Infant, Male, Prognosis, Symptom Assessment, Transcobalamins, Vitamin B 12