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Klin Padiatr 2017; 229(06): 355-357
DOI: 10.1055/s-0043-120266
Short Communication
© Georg Thieme Verlag KG Stuttgart · New York

Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential

Transcobalamin-Mangel: eine seltene Erkrankung mit einem breiten Differenzialdiagnose Spektrum
Mwe Mwe Chao
1   Pediatric Hematology Oncology, Hannover Medical School, Hannover, Germany
,
Sabine Illsinger
2   Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
,
Ayami Yoshimi
3   Division of Pediatric Hematology and Oncology, Center for Pediatrics and Adolescent Medicine, Freiburg, Germany
,
Anibh Martin Das   *
2   Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
,
Christian Peter Kratz   *
1   Pediatric Hematology Oncology, Hannover Medical School, Hannover, Germany
› Institutsangaben
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Publikationsdatum:
13. November 2017 (online)

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Erratum zu diesem Artikel:

Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad DifferentialKlin Padiatr 2017; 229(06): e1-e1
DOI: 10.1055/a-0820-5131

Introduction

Cobalamin, also known as vitamin B12, is a water-soluble vitamin that is crucial for the normal function of the gastrointestinal, dermatologic, immunologic, neuropsychiatric and hematopoietic systems. The vitamin is essential and must be supplied by our diet. Deficiency of cobalamin may be due to insufficient dietary intake, compromised gastrointestinal transport or due to inborn errors of cobalamin carriage or metabolism. We report on an infant who presented with bi- and trilineage cytopenia, fever, vomiting, diarrhea and failure to thrive. The patient was diagnosed with transcobalamin II deficiency, a defect in the blood transport and cellular uptake of cobalamin.

* authors contributed equally