Literature DB >> 21630071

Megaloblastic anemia--a rare cause.

Sanjib Kr Debnath1, Anju Aggarwal, Hema Mittal.   

Abstract

A 2- year- old boy presented with non responsive megaloblastic anemia, growth failure and developmental delay. Blood levels of B(12), folic acid and iron were normal. Tandem mass spectroscopy for common inborn errors of metabolism did not reveal any abnormality. There was an increased excretion of orotic acid in urine. The authors report this as a rare cause of megaloblastic anemia.

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Year:  2011        PMID: 21630071     DOI: 10.1007/s12098-011-0461-6

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  10 in total

1.  Refractory megaloblastic anemia associated with excretion of orotic acid.

Authors:  C M HUGULEY; J A BAIN; S L RIVERS; R B SCOGGINS
Journal:  Blood       Date:  1959-06       Impact factor: 22.113

2.  Pyrimidine metabolism in man. I. The biosynthesis of orotic acid.

Authors:  L H SMITH; F A BAKER
Journal:  J Clin Invest       Date:  1959-05       Impact factor: 14.808

3.  Megaloblastic anemia: back in focus.

Authors:  Jagdish Chandra
Journal:  Indian J Pediatr       Date:  2010-06-29       Impact factor: 1.967

Review 4.  Orotic aciduria and uridine monophosphate synthase: a reappraisal.

Authors:  C J Bailey
Journal:  J Inherit Metab Dis       Date:  2009-06-27       Impact factor: 4.982

5.  Hereditary orotic aciduria. I. A new case with family studies.

Authors:  L E Rogers; L R Warford; R B Patterson; F S Porter
Journal:  Pediatrics       Date:  1968-09       Impact factor: 7.124

6.  Absence of immune deficiency in hereditary orotic aciduria.

Authors:  D M Becroft; L I Phillips; D R Webster; J D Wilson
Journal:  N Engl J Med       Date:  1984-05-17       Impact factor: 91.245

7.  Cellular immune deficiency in two siblings with hereditary orotic aciduria.

Authors:  R Girot; M Hamet; J L Perignon; M Guesnu; R M Fox; P Cartier; A Durandy; C Griscelli
Journal:  N Engl J Med       Date:  1983-03-24       Impact factor: 91.245

8.  Pancytopenia in nutritional megaloblastic anaemia. A study from north-west India.

Authors:  R Sarode; G Garewal; N Marwaha; R K Marwaha; S Varma; K Ghosh; D Mohanty; K C Das
Journal:  Trop Geogr Med       Date:  1989-10

9.  Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.

Authors:  M Imaeda; S Sumi; H Imaeda; M Suchi; K Kidouchi; H Togari; Y Wada
Journal:  Tohoku J Exp Med       Date:  1998-05       Impact factor: 1.848

10.  Thiamine responsive megaloblastic anemia syndrome.

Authors:  Ramaswamy Ganesh; S Ezhilarasi; Thiruvengadam Vasanthi; Kalpana Gowrishankar; Sarala Rajajee
Journal:  Indian J Pediatr       Date:  2009-04-06       Impact factor: 1.967

  10 in total

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