Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency
- 1 December 1980
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 3 (1) , 95-96
- https://doi.org/10.1007/bf02312538
Abstract
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).Keywords
This publication has 8 references indexed in Scilit:
- TC II deficiency: observations with deoxyuridine suppression testPublished by Walter de Gruyter GmbH ,1979
- Megaloblastic anemia as a result of an abnormal transcobalamin II (Cardeza).Journal of Clinical Investigation, 1979
- Inherited Lack of Transcobalamin II in Serum and Megaloblastic Anaemia: a Further PatientBritish Journal of Haematology, 1979
- Cobalamins in Fibroblasts Cultured from Normal Control Subjects and Patients with Methylmalonic AciduriaPediatric Research, 1976
- Hereditary transcobalamin II deficiency: Clinical findings in a new familyThe Journal of Pediatrics, 1974
- Tissue Distribution of Coenzyme and other Forms of Vitamin B12 in Control Subjects and Patients with Pernicious AnaemiaClinical Science, 1974
- Neonatal Megaloblastic Anemia Due to Inherited Transcobalamin II Deficiency in Two SiblingsNew England Journal of Medicine, 1971
- Results with radioisotopic assay of serum B12using serum binding agentJournal of Clinical Pathology, 1967