Journal of Inherited Metabolic Disease

, Volume 4, Issue 1, pp 143–144 | Cite as

Abnormal biochemistry and morphology of erythrocytes in a case of transcobalamin II deficiency during treatment

  • M. Frater-Schröder
  • R. Seger
  • W. H. Hitzig
  • J. C. Linnell
  • H. -J. Huser
  • J. Galle
  • A. Wildfeuer
Work In Progress

Abstract

Metabolic studies on a transcobalamin II deficient child during apparent haematological remission revealed abnormally low erythrocyte levels of cobalamin- and folate-coenzymes and highly unusual morphology of erythrocytes. Transfusion with hydroxocobalamin-supplemented plasma temporarily normalized the child's erythrocyte adenosylcobalamin and methylcobalamin. Subsequent oral leucovorin increased erythrocyte levels of low-polyglutamate folate. These findings provide further evidence that TCII may be involved not only in cellular cobalamin uptake but also in intracellular conversion of the cobalamin coenzymes and polyglutamate folates.

Keywords

Folate Leucovorin Cobalamin Metabolic Study Abnormal Biochemistry 

References

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Copyright information

© MTP Press Limited 1981

Authors and Affiliations

  • M. Frater-Schröder
    • 1
  • R. Seger
    • 1
  • W. H. Hitzig
    • 1
  • J. C. Linnell
    • 2
  • H. -J. Huser
    • 3
  • J. Galle
    • 4
  • A. Wildfeuer
    • 4
  1. 1.Department of PaediatricsUniversity of ZürichZürichSwitzerland
  2. 2.Department of Experimental Chemical PathologyWestminster HospitalLondon
  3. 3.Haematology Research LaboratoryBerneSwitzerland
  4. 4.Department of PathologyUniversity of UlmFDR

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