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Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin.
Am J Med Genet. 1990 Feb; 35(2):222-8.AJ

Abstract

An infant with deficiency of transcobalamin II (TCII) presented with virtually complete failure 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 patient 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.

Authors+Show Affiliations

Department of Pediatrics, University of California San Diego, La Jolla 92093.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

2309761

Citation

Barshop, B A., et al. "Transcobalamin II Deficiency Presenting With Methylmalonic Aciduria and Homocystinuria and Abnormal Absorption of Cobalamin." American Journal of Medical Genetics, vol. 35, no. 2, 1990, pp. 222-8.
Barshop BA, Wolff J, Nyhan WL, et al. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am J Med Genet. 1990;35(2):222-8.
Barshop, B. A., Wolff, J., Nyhan, W. L., Yu, A., Prodanos, C., Jones, G., Sweetman, L., Leslie, J., Holm, J., & Green, R. (1990). Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. American Journal of Medical Genetics, 35(2), 222-8.
Barshop BA, et al. Transcobalamin II Deficiency Presenting With Methylmalonic Aciduria and Homocystinuria and Abnormal Absorption of Cobalamin. Am J Med Genet. 1990;35(2):222-8. PubMed PMID: 2309761.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. A1 - Barshop,B A, AU - Wolff,J, AU - Nyhan,W L, AU - Yu,A, AU - Prodanos,C, AU - Jones,G, AU - Sweetman,L, AU - Leslie,J, AU - Holm,J, AU - Green,R, PY - 1990/2/1/pubmed PY - 1990/2/1/medline PY - 1990/2/1/entrez SP - 222 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 35 IS - 2 N2 - An infant with deficiency of transcobalamin II (TCII) presented with virtually complete failure 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 patient 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2309761/Transcobalamin_II_deficiency_presenting_with_methylmalonic_aciduria_and_homocystinuria_and_abnormal_absorption_of_cobalamin_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=35&issue=2&spage=222 DB - PRIME DP - Unbound Medicine ER -