Secondary Hemophagocytosis in Propionic Acidemia

Propionic acidemia is one of the intoxication type organic acidemias, which often present in the neonatal period with lethargy, feeding difficulties, hypotonia, vomiting and coma if not identified and treated appropriately. Patients with propionic acidemia can decompensate during periods of increased metabolic demand (1, 2). Hemophagocytic lymphohistiocytosis (HLH) is a life threatening disorder that can rapidly deteriorate and lead to multiple organ failure and death. It can be classified as primary (familial) or secondary (acquired) (3, 4). Secondary HLH is associated with infections especially viral, malignant disorders, inborn errors of metabolism such as multiple sulphatase deficiency, lysinuric protein intolerance, biotinidase deficiency, Gaucher disease and galactosialidosis (5-8) In this report, we present a case of a 3 year old boy with propionic acidemia who experienced secondary HLH during his metabolic attack and was successfully treated with intravenous gammaglobulin, broad spectrum antibiotics and dexamethasone therapy.