Transcobalamin deficiency: vitamin B12 deficiency with normal serum B12 levels.
BMJ Case Rep
; 12(10)2019 Oct 30.
Article
em En
| MEDLINE
| ID: mdl-31666257
ABSTRACT
Transcobalamin (TC) deficiency is a rare autosomal recessive inborn error of cobalamin transport which clinically manifests in early infancy. We describe a child with TC deficiency who presented with classical clinical and lab stigmata of inborn error of vitamin B12 metabolism except normal serum B12 levels. He was started on empirical parenteral cobalamin supplements at 2 months of age; however, the definitive diagnosis could only be established at 6 years of age when a genetic evaluation revealed homozygous nonsense variation in exon 8 of the TCN2 gene (chr22g.31019043C>T).
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Vitamina B 12
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Deficiência de Vitamina B 12
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Transcobalaminas
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Erros Inatos do Metabolismo
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article