H01190 | |
H number | H01190 |
Name | Transcobalamin II deficiency |
Description | Transcobalamin (TC) II deficiency is a rare autosomal recessive disorder of vitamin B12 (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase and methyl-malonyl CoA mutase activities. This disorder presents with failure to thrive, mucosal ulceration, vomiting, diarrhoea, lethargy, irritability, and occasionally immunological dysfunction. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular hydroxocobalamin is not initiated promptly. Mutations in the TCN2 gene are known to cause. |
Category | Inherited metabolic disorder |
Network | - |
Gene | TCN2 [HSA:6948] [KO:K14619] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 3A01.0 ICD-10: D51.2 OMIM: 275350 |
Reference | PMID:20352340 AUTHORS Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat SJ, Odent S, Shortland G, Touati G, Giraudier S TITLE Should transcobalamin deficiency be treated aggressively? JOURNAL J Inherit Metab Dis 33:223-9 (2010) DOI:10.1007/s10545-010-9074-x PMID:19581117 AUTHORS Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Muhl A, Fowler B, Nexo E, Bodamer OA TITLE Transcobalamin II deficiency at birth. JOURNAL Mol Genet Metab 98:285-8 (2009) DOI:10.1016/j.ymgme.2009.06.003 PMID:18956254 AUTHORS Prasad C, Rosenblatt DS, Corley K, Cairney AE, Rupar CA TITLE Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood. JOURNAL J Inherit Metab Dis 31 Suppl 2:S287-92 (2008) DOI:10.1007/s10545-008-0864-3 |