Transcobalamin II deficiency at birth

Molecular Genetics and Metabolism

Volumn 98, Issue 3, 2009, Pages 285-288

  Ratschmann, Rene ^a   Minkov, Milen ^a   Kis, Ana ^b   Hung, Christina ^b   Rupar, Tony ^c   Mühl, Adolf ^a   Fowler, Brian ^d   Nexo, Ebba ^e   Bodamer, Olaf A ^a,b  

^a ST ANNA CHILDREN S HOSPITAL   (Austria)

^b Children's Hospital Salzburg   (Austria)

^c UNIVERSITY OF WESTERN ONTARIO   (Canada)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Cobalamin; Homocysteine; Methylmalonate; Transcobalamin; Vitamin B12

Indexed keywords

HYDROXOCOBALAMIN; METHYLMALONIC ACID; TRANSCOBALAMIN II;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; CYANOCOBALAMIN DEFICIENCY; DISEASE COURSE; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; NUCLEOTIDE SEQUENCE; PANCYTOPENIA; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DEPLETION; PROTEIN LOSING GASTROENTEROPATHY; STOP CODON; TRANSCOBALAMIN II DEFICIENCY; URINARY EXCRETION;

CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; HUMANS; INFANT; METHYLMALONIC ACID; PANCYTOPENIA; TRANSCOBALAMINS; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 70349733037     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.06.003     Document Type: Article

References (39)

1. Barshop B.A., Wolff J., Nyhan W.L., Yu A., Prodanos C., Jones G., Sweetman L., Leslie J., Holm J., and Green R. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am. J. Med. Genet. 35 (1990) 222-228
2. Rappazzo M.E., and Hall C.A. Transport function of transcobalamin II. J. Clin. Invest. 51 (1972) 1915-1918
3. Banerjee R., and Ragsdale S.W. The many faces of vitamin B12: catalysis by cobalamin-dependent enzymes. Annu. Rev. Biochem. 72 (2003) 209-247
4. Rosenblatt D.S., and Fenton W.A. Inherited disorders of folate and cobalamin transport and metabolism. In: Budet A.L., Valle D., and Sly W. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. (2001), McGraw Hill, New York 3897-3957
5. Arwert F., Porck H.J., Frater-Schroder M., Brahe C., Geurts van Kessel A., Westerveld A., Meera Khan P., Zang K., Frants R.R., Kortbeek H.T., et al. Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells. Hum. Genet. 74 (1986) 378-381
6. Regec A., Quadros E.V., Platica O., and Rothenberg S.P. The cloning and characterization of the human transcobalamin II gene. Blood 85 (1995) 2711-2719
7. Li N., Seetharam S., and Seetharam B. Genomic structure of human transcobalamin II: comparison to human intrinsic factor and transcobalamin I. Biochem. Biophys. Res. Commun. 208 (1995) 756-764
8. Gimpert E., Jakob M., and Hitzig W.H. Vitamin B12 transport in blood. I. Congenital deficiency of transcobalamin II. Blood 45 (1975) 71-82
9. Hakami N., Neiman P.E., Canellos G.P., and Lazerson J. Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. N. Engl. J. Med. 285 (1971) 1163-1170
10. Hitzig W.H., Dohmann U., Pluss H.J., and Vischer D. Hereditary transcobalamin II deficiency: clinical findings in a new family. J. Pediatr. 85 (1974) 622-628
11. Burman J.F., Mollin D.L., Sourial N.A., and Sladden R.A. Inherited lack of transcobalamin II in serum and megaloblastic anaemia: a further patient. Br. J. Haematol. 43 (1979) 27-38
12. Carmel R., and Ravindranath Y. Congenital transcobalamin II deficiency presenting atypically with a low serum cobalamin level: studies demonstrating the coexistence of a circulating transcobalamin I (R binder) complex. Blood 63 (1984) 598-605
13. Gimferrer E., Vives Mane J., Baiget M., et al. Inherited deficiency of transcobalamin II in a Spanish woman. Biol. Clin. Hematol. 3 (1981) 267-270
14. Hoffbrand A.V., Tripp E., Jackson B.F., Luck W.E., and Frater-Schroder M. Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency. N. Engl. J. Med. 310 (1984) 789-790
15. Meyers P.A., and Carmel R. Hereditary transcobalamin II deficiency with subnormal serum cobalamin levels. Pediatrics 74 (1984) 866-871
16. Niebrugge D.J., Benjamin D.R., Christie D., and Scott C.R. Hereditary transcobalamin II deficiency presenting as red cell hypoplasia. J. Pediatr. 101 (1982) 732-735
17. Rana S.R., Colman N., Goh K.O., Herbert V., and Klemperer M.R. Transcobalamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities. Am. J. Hematol. 14 (1983) 89-96
18. Sacher M., Paky F., and Frater-Schroder M. Inherited transcobalamin-II-deficiency: clinical, genetic studies and diagnosis using cultured fibroblasts. Helv. Paediatr. Acta 38 (1983) 549-558
19. Seligman P.A., Steiner L.L., and Allen R.H. Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. N. Engl. J. Med. 303 (1980) 1209-1212
20. Thomas P., and Hoffbrand A. Hereditary transcobalamin II deficiency: a 22 year follow up. J. Neurol. Neurosurg. Psychiatry 62 (1997) 197
21. Thomas P.K., Hoffbrand A.V., and Smith I.S. Neurological involvement in hereditary transcobalamin II deficiency. J. Neurol. Neurosurg. Psychiatry 45 (1982) 74-77
22. Arlet J.B., Varet B., and Besson C. Favorable long-term outcome of a patient with transcobalamin II deficiency. Ann. Intern. Med. 137 (2002) 704-705
23. Arrabal M.C., Villegas A., Mariscal E., Lentijo B., Luck W., and Hoffbrand A.V. Transcobalamin II deficiency: long-term follow-up of two cases. Acta Haematol. 80 (1988) 162-166
24. Bibi H., Gelman-Kohan Z., Baumgartner E.R., and Rosenblatt D.S. Transcobalamin II deficiency with methylmalonic aciduria in three sisters. J. Inherit. Metab. Dis. 22 (1999) 765-772
25. Grech V., Vella C., and Mercieca V. Temporary myoclonus with treatment of congenital transcobalamin 2 deficiency. Pediatr. Neurol. 24 (2001) 75-76
26. Kaikov Y., Wadsworth L.D., Hall C.A., and Rogers P.C. Transcobalamin II deficiency: case report and review of the literature. Eur. J. Pediatr. 150 (1991) 841-843
27. Li N., Rosenblatt D.S., Kamen B.A., Seetharam S., and Seetharam B. Identification of two mutant alleles of transcobalamin II in an affected family. Hum. Mol. Genet. 3 (1994) 1835-1840
28. Linnell J.C., and Bhatt H.R. Inherited errors of cobalamin metabolism and their management. Baillieres Clin. Haematol. 8 (1995) 567-601
29. Monagle P.T., and Tauro G.P. Long-term follow up of patients with transcobalamin II deficiency. Arch. Dis. Child. 72 (1995) 237-238
30. Souied E.H., Benhamou N., Sterkers M., Oubraham H., Coscas G., Soubrane G., Zittoun J., Echenne B., and Rothenberg S. Retinal degeneration associated with congenital transcobalamin II deficiency. Arch. Ophthalmol. 119 (2001) 1076-1077
31. Teplitsky V., Huminer D., Zoldan J., Pitlik S., Shohat M., and Mittelman M. Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults. Isr. Med. Assoc. J. 5 (2003) 868-872
32. Vance G.H., Moncino M., and Heerema N.A. Cytogenetic findings of a child with transcobalamin II deficiency. Am. J. Med. Genet. 46 (1993) 615-619
33. Zeitlin H.C., Sheppard K., Baum J.D., Bolton F.G., and Hall C.A. Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. Blood 66 (1985) 1022-1027
34. C. Prasad, D.S. Rosenblatt, K. Corley, A. E. Cairney, C.A. Rupar, Transcobalamin (TC) deficiency-Potential cause of bone marrow failure in childhood, J. Inherit. Metab. Dis. (2008), in press.
35. Li N., Rosenblatt D.S., and Seetharam B. Nonsense mutations in human transcobalamin II deficiency. Biochem. Biophys. Res. Commun. 204 (1994) 1111-1118
36. Qian L., Quadros E.V., Regec A., Zittoun J., and Rothenberg S.P. Congenital transcobalamin II deficiency due to errors in RNA editing. Blood Cells Mol. Dis. 28 (2002) 134-145
37. Namour F., Helfer A.C., Quadros E.V., Alberto J.M., Bibi H.M., Orning L., Rosenblatt D.S., and Jean-Louis G. Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. Br. J. Haematol. 123 (2003) 915-920
38. Nexo E., Christensen A.L., Petersen T.E., and Fedosov S.N. Measurement of transcobalamin by ELISA. Clin. Chem. 46 (2000) 1643-1649
39. Morkbak A.L., Pedersen J.F., and Nexo E. Glycosylation independent measurement of the cobalamin binding protein haptocorrin. Clin. Chim. Acta 356 (2005) 184-190