Literature DB >> 1743216

Transcobalamin II deficiency: case report and review of the literature.

Y Kaikov1, L D Wadsworth, C A Hall, P C Rogers.   

Abstract

A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively reviewed, and the importance of early diagnosis to prevent neurological dysfunction is stressed.

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Year:  1991        PMID： 1743216     DOI： 10.1007/bf01955004

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  22 in total

1.  Measurement of unsaturated ""granulocyte-related'' (TC I and TC III) and ""liver-related'' (TC II) B12 binders by instant batch separation using a microfine precipitate of silica (QUSO G32).

Authors:  E Jacob; V Herbert
Journal:  J Lab Clin Med       Date:  1975-09

2.  Hereditary transcobalamin II deficiency: clinical findings in a new family.

Authors:  W H Hitzig; U Dohmann; H J Pluss; D Vischer
Journal:  J Pediatr       Date:  1974-11       Impact factor: 4.406

3.  Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings.

Authors:  N Hakami; P E Neiman; G P Canellos; J Lazerson
Journal:  N Engl J Med       Date:  1971-11-18       Impact factor: 91.245

4.  Congenital transcobalamin II deficiency presenting atypically with a low serum cobalamin level: studies demonstrating the coexistence of a circulating transcobalamin I (R binder) complex.

Authors:  R Carmel; Y Ravindranath
Journal:  Blood       Date:  1984-03       Impact factor: 22.113

5.  Vitamin B12--binding proteins.

Authors:  E Jacob; S J Baker; V Herbert
Journal:  Physiol Rev       Date:  1980-07       Impact factor: 37.312

6.  Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II.

Authors:  P A Seligman; L L Steiner; R H Allen
Journal:  N Engl J Med       Date:  1980-11-20       Impact factor: 91.245

7.  Neurological involvement in hereditary transcobalamin II deficiency.

Authors:  P K Thomas; A V Hoffbrand; I S Smith
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-01       Impact factor: 10.154

8.  Radioimmunoassay for serum transcobalamin II.

Authors:  T A Morelli; C R Savage; J A Begley; C A Hall
Journal:  J Lab Clin Med       Date:  1977-03

9.  Removal of cobalamin analogue in bile by enterohepatic circulation of vitamin B12.

Authors:  S Kanazawa; V Herbert; B Herzlich; G Drivas; C Manusselis
Journal:  Lancet       Date:  1983-03-26       Impact factor: 79.321

10.  Inherited lack of transcobalamin II in serum and megaloblastic anaemia: a further patient.

Authors:  J F Burman; D L Mollin; N A Sourial; R A Sladden
Journal:  Br J Haematol       Date:  1979-09       Impact factor: 6.998
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  11 in total

Review 1.  Vitamin B(12) deficiency in infants secondary to maternal causes.

Authors:  Nadia Roumeliotis; David Dix; Alisa Lipson
Journal:  CMAJ       Date:  2012-06-18       Impact factor: 8.262

Review 2.  The neurology of enteric disease.

Authors:  A J Wills; D S N A Pengiran Tengah; G K T Holmes
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-03-30       Impact factor: 10.154

3.  Should transcobalamin deficiency be treated aggressively?

Authors:  Manuel Schiff; Hélène Ogier de Baulny; Ghislaine Bard; Vincent Barlogis; Christian Hamel; Stuart J Moat; Sylvie Odent; Graham Shortland; Guy Touati; Stéphane Giraudier
Journal:  J Inherit Metab Dis       Date:  2010-03-30       Impact factor: 4.982

4.  Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency.

Authors:  Lance Harrington Rodan; Navin Mishra; Ivanna Yau; Andrea Andrade; Komudi Siriwardena; Ingrid Tein
Journal:  JIMD Rep       Date:  2013-02-21

5.  A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis.

Authors:  Selma Unal; Ozlem Tezol; Yesim Oztas
Journal:  Int J Hematol       Date:  2014-02-22       Impact factor: 2.490

6.  Long-term follow up of patients with transcobalamin II deficiency.

Authors:  P T Monagle; G P Tauro
Journal:  Arch Dis Child       Date:  1995-03       Impact factor: 3.791

7.  Transcobalamin II deficiency with methylmalonic aciduria in three sisters.

Authors:  H Bibi; Z Gelman-Kohan; E R Baumgartner; D S Rosenblatt
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

8.  Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Authors:  C Prasad; D S Rosenblatt; K Corley; A E L Cairney; C A Rupar
Journal:  J Inherit Metab Dis       Date:  2008-10-29       Impact factor: 4.982

Review 9.  Inborn errors of metabolism underlying primary immunodeficiencies.

Authors:  Nima Parvaneh; Pierre Quartier; Parastoo Rostami; Jean-Laurent Casanova; Pascale de Lonlay
Journal:  J Clin Immunol       Date:  2014-08-01       Impact factor: 8.317

10.  Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Authors:  Y J Trakadis; A Alfares; O A Bodamer; M Buyukavci; J Christodoulou; P Connor; E Glamuzina; F Gonzalez-Fernandez; H Bibi; B Echenne; I Manoli; J Mitchell; M Nordwall; C Prasad; F Scaglia; M Schiff; B Schrewe; G Touati; M C Tchan; B Varet; C P Venditti; D Zafeiriou; C A Rupar; D S Rosenblatt; D Watkins; N Braverman
Journal:  J Inherit Metab Dis       Date:  2013-12-05       Impact factor: 4.982
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