Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report

• Main Authors: Francesco Martino (Author), Alessandra Magenta (Author), Maria Letizia Troccoli (Author), Eliana Martino (Author), Concetta Torromeo (Author), Carolina Putotto (Author), Francesco Barillà (Author)
• Format: Book
• Published: BMC, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: < 1/1000000) which clinically manifests in early infancy. Case presentation We describe the case of a 31 years old woman who at the age of 30 days presented with the classi...