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Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Basgalupp, Suelen Porto; Donis, Karina Carvalho; Siebert, Marina; E Vairo, Filippo Pinto; Artigalas, Osvaldo; de Camargo Pinto, Louise L; Behringer, Sidney; Spiekerkoetter, Ute; Hannibal, Luciana; Schwartz, Ida Vanessa D.
Afiliación
  • Basgalupp SP; Postgraduate Program in Medical Sciences, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Donis KC; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Siebert M; Hospital Moinhos de Vento, Porto Alegre, Brazil.
  • E Vairo FP; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Artigalas O; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • de Camargo Pinto LL; Unit of Laboratorial Research, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Behringer S; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Spiekerkoetter U; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Hannibal L; Hospital da Criança Conceição, Grupo Hospitalar Conceição (GHC), Porto Alegre, Brazil.
  • Schwartz IVD; Hospital Infantil Joana de Gusmão, Florianópolis, Brazil.
Am J Med Genet A ; 185(8): 2471-2476, 2021 08.
Article en En | MEDLINE | ID: mdl-34031990
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of ß-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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transcobalaminas / Biomarcadores / Enfermedad de Gaucher Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transcobalaminas / Biomarcadores / Enfermedad de Gaucher Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos