Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature

Abstract Background Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency. Clinical presentations range from acute deterioration in the neonatal p...

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Bibliographic Details

Published in:	BMC Pediatrics
Main Authors:	Fumiya Yamashita, Satoshi Akamine, Pin Fee Chong, Kenichi Maeda, Saori Kawakami, Sooyoung Lee, Masataka Ishimura, Kei Murayama, Yasunari Sakai, Ryutaro Kira
Format:	Article
Language:	English
Published:	BMC 2025-03-01
Subjects:	Methylmalonic acidemia Secondary hemophagocytic lymphohistiocytosis Metabolic attack Ferritin
Online Access:	https://doi.org/10.1186/s12887-025-05613-9