Favorable Long-Term Outcome of a Patient with Transcobalamin II Deficiency

Letters15 October 2002Favorable Long-Term Outcome of a Patient with Transcobalamin II DeficiencyJean-Benoît Arlet, MD, Bruno Varet, MD, and Caroline Besson, MDJean-Benoît Arlet, MDHôpital Necker; 75743 Paris, FranceSearch for more papers by this author, Bruno Varet, MDHôpital Necker; 75743 Paris, FranceSearch for more papers by this author, and Caroline Besson, MDHôpital Necker; 75743 Paris, FranceSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-137-8-200210150-00033 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:Background: Transcobalamin II (TCII) deficiency is a rare autosomal recessive disease. Transcobalamin II is a major plasma transport protein for cobalamin. The TCII–cobalamin complex binds to a cell receptor and is then internalized. Therefore, TCII deficiency leads to cellular cobalamin deficiency and results in early-onset megaloblastic anemia, immunologic deficiency, and neurologic abnormalities. Of interest, serum cobalamin levels are normal in patients with TCII deficiency, indicating that most cobalamin is carried by transcobalamin I. Transcobalamin II deficiency is diagnosed if plasma levels of TCII are undetectable. The first case of this disorder was reported 30 years ago. Since ...References1. Hitzig WH, Dohmann U, Pluss HJ, Vischer D. Hereditary transcobalamin II deficiency: clinical findings in a new family. J Pediatr. 1974;85:622-8. [PMID: 4138209] CrossrefMedlineGoogle Scholar2. Monagle PT, Tauro GP. Long-term follow up of patients with transcobalamin II deficiency. Arch Dis Child. 1995;72:237-8. [PMID: 7741573] CrossrefMedlineGoogle Scholar3. Hall CA. The neurologic aspects of transcobalamin II deficiency. Br J Haematol. 1992;80:117-20. [PMID: 1536799] CrossrefMedlineGoogle Scholar4. Thomas PK, Hoffbrand AV. Hereditary transcobalamin II deficiency: a 22 year follow up [Letter]. J Neurol Neurosurg Psychiatry. 1997;62:197. [PMID: 9048724] CrossrefMedlineGoogle Scholar5. Fenton WA, Rosenberg LE. Inherited disorders of cobalamin transport and metabolism.. In: Scriver CR, Baudet AL, Sly WS, and Valley D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: Raven Pr; 1994:1997-2026. Google Scholar Author, Article, and Disclosure InformationAffiliations: Hôpital Necker; 75743 Paris, France PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byTranscobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literatureTranscobalamin deficiency: vitamin B 12 deficiency with normal serum B 12 levelsUpdate on transcobalamin deficiency: clinical presentation, treatment and outcome 15 October 2002Volume 137, Issue 8Page: 704-705KeywordsBlood plasmaCobalaminsMegaloblastic anemiaNeutropeniaPediatric infectionsPlasma proteinsPlateletsResearch laboratoriesThrombocytosisTreatment guidelines ePublished: 15 October 2002 Issue Published: 15 October 2002 Copyright & PermissionsCopyright © 2002 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...