Megaloblastic Anemia—A Rare Cause
作者： Sanjib Kr Debnath , Anju Aggarwal , Hema Mittal
DOI: 10.1007/S12098-011-0461-6
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摘要: A 2- year- old boy presented with non responsive megaloblastic anemia, growth failure and developmental delay. Blood levels of B12, folic acid iron were normal. Tandem mass spectroscopy for common inborn errors metabolism did not reveal any abnormality. There was an increased excretion orotic in urine. The authors report this as a rare cause anemia.
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N. Marwaha, R. K. Marwaha, Ravindra Sarode, S. Varma, K. Ghosh, G. Garewal, K. C. Das, D. Mohanty, Pancytopenia in nutritional megaloblastic anaemia. A study from north-west India. Tropical and geographical medicine. ,vol. 41, pp. 331- 336 ,(1989)
CHARLES M. HUGULEY, JAMES A. BAIN, SHIRLEY L. RIVERS, ROBERT B. SCOGGINS, Refractory megaloblastic anemia associated with excretion of orotic acid. Blood. ,vol. 14, pp. 615- 634 ,(1959) , 10.1182/BLOOD.V14.6.615.615
F. Stanley Porter, Lloyd R. Warford, Richard B. Patterson, Lon E. Rogers, HEREDITARY OROTIC ACIDURIA I. A NEW CASE WITH FAMILY STUDIES Pediatrics. ,vol. 42, pp. 415- 422 ,(1968)
Masayuki Imaeda, Satoshi Sumi, Hiromi Imaeda, Mariko Suchi, Kiyoshi Kidouchi, Hajime Togari, Yoshiro Wada, Hereditary Orotic Aciduria Heterozygotes Accompanied with Neurological Symptoms Tohoku Journal of Experimental Medicine. ,vol. 185, pp. 67- 70 ,(1998) , 10.1620/TJEM.185.67
Ramaswamy Ganesh, S. Ezhilarasi, Thiruvengadam Vasanthi, Kalpana Gowrishankar, Sarala Rajajee, Thiamine responsive megaloblastic anemia syndrome Indian Journal of Pediatrics. ,vol. 76, pp. 313- 314 ,(2009) , 10.1007/S12098-009-0058-5
Robert Girot, Michèle Hamet, Jean-Louis Perignon, Michel Guesnu, Richard M. Fox, Pierre Cartier, Anne Durandy, Claude Griscelli, Cellular Immune Deficiency in Two Siblings with Hereditary Orotic Aciduria New England Journal of Medicine. ,vol. 308, pp. 700- 704 ,(1983) , 10.1056/NEJM198303243081207
C. J. Bailey, Orotic aciduria and uridine monophosphate synthase: a reappraisal. Journal of Inherited Metabolic Disease. ,vol. 32, pp. 227- 233 ,(2009) , 10.1007/S10545-009-1176-Y
Lloyd H. Smith, Faith A. Baker, PYRIMIDINE METABOLISM IN MAN. I. THE BIOSYNTHESIS OF OROTIC ACID*† Journal of Clinical Investigation. ,vol. 38, pp. 798- 809 ,(1959) , 10.1172/JCI103862
Lloyd H. Smith, Pyrimidine metabolism in man. The New England Journal of Medicine. ,vol. 288, pp. 764- 771 ,(1973) , 10.1056/NEJM197304122881505
Jagdish Chandra, Megaloblastic anemia: Back in focus Indian Journal of Pediatrics. ,vol. 77, pp. 795- 799 ,(2010) , 10.1007/S12098-010-0121-2