Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.
Ann Hematol
; 103(8): 3243-3246, 2024 Aug.
Article
em En
| MEDLINE
| ID: mdl-38976007
ABSTRACT
BACKGROUND:
Vitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid. CASE REPORT We report a case of a 2-year-old male child with persistent pancytopenia, recurrent infections, and megaloblastic anemia. Next-generation sequencing identified a novel variant in exon 8 of TCN2 gene. Substantial improvement has been observed following administration of high doses of parenteral methylcobalamin.CONCLUSION:
In patients with unresolved pancytopenia and megaloblastic anemia, Transcobalamin deficiency should be investigated and treated promptly to prevent any irreversible and harmful outcome.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Vitamina B 12
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Transcobalaminas
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article