Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.
Cobalamin
Deficiency
Hydroxocobalamin
Megaloblastic anemia
Transcobalamin
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
08 Mar 2021
08 Mar 2021
Historique:
received:
27
01
2021
accepted:
22
02
2021
entrez:
9
3
2021
pubmed:
10
3
2021
medline:
30
10
2021
Statut:
epublish
Résumé
Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: < 1/1000000) which clinically manifests in early infancy. We describe the case of a 31 years old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B Our case report highlights that early detection of TC deficiency and early initiation of aggressive IM treatment is likely associated with disease control and an overall favorable outcome.
Sections du résumé
BACKGROUND
BACKGROUND
Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: < 1/1000000) which clinically manifests in early infancy.
CASE PRESENTATION
METHODS
We describe the case of a 31 years old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B
CONCLUSIONS
CONCLUSIONS
Our case report highlights that early detection of TC deficiency and early initiation of aggressive IM treatment is likely associated with disease control and an overall favorable outcome.
Identifiants
pubmed: 33685478
doi: 10.1186/s13052-021-01007-6
pii: 10.1186/s13052-021-01007-6
pmc: PMC7941906
doi:
Substances chimiques
TCN2 protein, human
0
Transcobalamins
0
Hydroxocobalamin
Q40X8H422O
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
54Subventions
Organisme : Ministero della Salute
ID : RF-02362708
Organisme : AFM-Téléthon
ID : 22522
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