KEGG   DISEASE: H01190Help
Entry
H01190                      Disease                                

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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of ion transport and metabolism
   H01190  Transcobalamin II deficiency
Human diseases in ICD-10 classification [BR:br08403]
 3. Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)
  D50-D53  Nutritional anaemias
   D51  Vitamin B12 deficiency anaemia
    H01190  Transcobalamin II deficiency
BRITE hierarchy
Pathway
Vitamin digestion and absorption
Gene
TCN2 [HSA:6948] [KO:K14619]
Drug
Hydroxocobalamin [DR:D01027]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:20352340 (description, gene)
  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)
Reference
PMID:19581117 (description, gene, drug)
  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)
Reference
PMID:18956254 (description, gene)
  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)

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