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Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency
Author(s) -
Linnell J. C.,
Quadros E. V.,
Elliott P. G.,
Malleson P.
Publication year - 1980
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02312538
Subject(s) - adenosylcobalamin , methylcobalamin , cobalamin , intracellular , chemistry , cyanocobalamin , hydroxocobalamin , metabolism , biochemistry , vitamin b12 , endocrinology , medicine , biology
Cobalamin metabolism has been investigated in a new case of transcobalamin II (TC II) deficiency. Using the chromatobioautographic technique, an abnormal distribution of cobalamins was detected in the child's erythrocytes and reduced synthesis of adenosylcobalamin but not of methylcobalamin in cultured fibroblasts. These results suggest that there may be a close link between TC II‐mediated cobalamin transport and intracellular synthesis of adenosylcobalamin (Ado‐Cbl).