Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin

B. A. Barshop, J. Wolf, W. L. Nyhan, A. Yu, C. Prodanos, G. Jones, L. Sweetman, J. Leslie, J. Holm, Ralph Green, D. W. Jacobsen, B. A. Cooper, D. Rosenblatt

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

An infant with deficiency of transcobalamin II (TCII) presented with virtually complete falure to thrive and life-threatening pancytopenia. Methylmalonic acid and homocystine were found in the urine. The concentration of B12 in the serum was 26 pg/ml. Fibroblasts derived from the patients failed to take up labeled cobalamin in the absence of a source of TCII. Uptake was normal in the presence of TCII. Treatment with parenteral cobalamin reversed the clinical and hematological manifestations of the disease but she developed glossitis when the interval between injections was lengthened. Intestinal absorption of 57Co-cobalamin was less than 1% and remained abnormal when highly purified human intrinsic factor was given along with the labeled B12. Absorption improved when the labeled B12 was given together with rabbit TCII. The data suggest that TCII as well as intrinsic factor is required for transport of cobalamin from the intestine to the blood.

Original languageEnglish (US)
Pages (from-to)222-228
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume35
Issue number2
StatePublished - 1990

Fingerprint

Transcobalamins
Homocystinuria
Vitamin B 12
Intrinsic Factor
Homocystine
Glossitis
Methylmalonic Acid
Pancytopenia
Hematologic Diseases
Intestinal Absorption
Intestines
Fibroblasts
Methylmalonic acidemia
Urine
Rabbits
Injections
Serum

Keywords

  • B absorption
  • Low serum B
  • Pancytopenia
  • TCII

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Barshop, B. A., Wolf, J., Nyhan, W. L., Yu, A., Prodanos, C., Jones, G., ... Rosenblatt, D. (1990). Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. American Journal of Medical Genetics, 35(2), 222-228.

Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. / Barshop, B. A.; Wolf, J.; Nyhan, W. L.; Yu, A.; Prodanos, C.; Jones, G.; Sweetman, L.; Leslie, J.; Holm, J.; Green, Ralph; Jacobsen, D. W.; Cooper, B. A.; Rosenblatt, D.

In: American Journal of Medical Genetics, Vol. 35, No. 2, 1990, p. 222-228.

Research output: Contribution to journalArticle

Barshop, BA, Wolf, J, Nyhan, WL, Yu, A, Prodanos, C, Jones, G, Sweetman, L, Leslie, J, Holm, J, Green, R, Jacobsen, DW, Cooper, BA & Rosenblatt, D 1990, 'Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin', American Journal of Medical Genetics, vol. 35, no. 2, pp. 222-228.
Barshop, B. A. ; Wolf, J. ; Nyhan, W. L. ; Yu, A. ; Prodanos, C. ; Jones, G. ; Sweetman, L. ; Leslie, J. ; Holm, J. ; Green, Ralph ; Jacobsen, D. W. ; Cooper, B. A. ; Rosenblatt, D. / Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. In: American Journal of Medical Genetics. 1990 ; Vol. 35, No. 2. pp. 222-228.
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