Erythroblastopenia associated with methylmalonic aciduria. Case report and in vitro studies

Biology of the Neonate
F CorazzaP Fondu

Abstract

Various cytopenias, including neutropenia, thrombocytopenia and pancytopenia, have been reported in association with inborn errors of branched amino acid metabolism. We report here on a case of anemia associated with erythroblastopenia-that is less frequent in this context-in a neonate with methylmalonic aciduria. We used a semisolid erythroid culture system to investigate the effect on in vitro erythropoiesis of organic acids found in excess in this patient: methylmalonic (MMA) and propionic (PA) acids. First, the addition of 10% serum of the patient to a normal bone marrow progenitor culture suppressed the erythrocyte colony-forming unit growth in comparison to a pool of normal serum, while the addition of a 1:1 mixture of normal and patient serum resulted in an intermediate inhibition. MMA, when added to culture medium, resulted in a moderate inhibition of erythropoiesis only at a higher concentration than observed in our patient or reported in other cases. Conversely, PA showed an inhibitory effect at a concentration commonly observed in methylmalonic aciduria. The same effect was observed when the cells were in the presence of PA only for 72 h and then secondly plated in semisolid culture. Neither MMA nor PA showed any eff...Continue Reading

Citations

Jul 14, 2012·PloS One·Heidi L PetersNicole E Buck
May 24, 2019·Journal of Inherited Metabolic Disease·Hanneke A HaijesPeter M van Hasselt
Apr 25, 2002·Journal of Pediatric Hematology/oncology·Gunnar SkeppnerGöran Elinder
May 11, 2018·Journal of Pediatric Hematology/oncology·Ertan SalAlev Hasanoglu

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