Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant

• DOI: 10.5546/aap.2020.eng.e174
• Publication Date: 2020-03-21T22:01:28Z
• Authors: Aydin Köker; Aydin Köker; Osman Yeşilbaş; Alper Köker; Esra Şevketoğlu
• Keywords: Methylmalonic acidemia; Hemophagocytic Lymphohistiocytosis; Hepatosplenomegaly; Lethargy; Propionic acidemia; Sandhoff disease; Compound heterozygosity

Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, rheumatologic disorders, immune deficiency syndromes and metabolic diseases.Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, galactosialidosis have previously been reported.It is unclear how the metabolites trigger HLH in diseases.A 2-month-old infant with lethargy, pallor, poor feeding, hepatosplenomegaly, fever pancytopenia, was diagnosed HLH-2004 treatment protocol initiated.Analysis for gene mutations screening tests were performed together; negative, but hyperammonemia elevated methyl citrate detected.Propionic acidemia tandem mass spectrometry neonatal dried blood spot.We report this case of propionic acidemia.Both disorder mutation analysis simultaneously especially early diagnosis infants presenting HLH.