Transcobalamin deficiency
Engelsk navn: Transcobalamin deficiency
Engelske synonym: Inherited deficiency of transcobalamin,Transcobalamin II deficiency
Definisjon
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
Fra Orphanet
ORPHA: 859
Klassifiseringsnivå: Disorder
ICD-10: D51.2
Mer informasjon
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