Immune dysregulation syndrome associated with inborn errors of metabolism – hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report - Takeaways - MDSpire

Immune dysregulation syndrome associated with inborn errors of metabolism – hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report

  • By

  • Frances Fuenmayor

  • Santiago Chávez

  • Sofía Ortíz

  • Marcelo Guerrero

  • Melanie Orellana

  • Diego Veintimilla

  • Inés Fernández

  • Leonel Meza

  • June 12, 2026

  • 0 min

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  • 1

    Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome that can be triggered by metabolic disorders.

  • 2

    An 18-month-old boy with HLH was diagnosed with isovaleric acidemia due to a homozygous pathogenic variant in the IVD gene.

  • 3

    The patient's clinical presentation included persistent fever, respiratory symptoms, pancytopenia, and neurological deterioration.

  • 4

    Concurrent infections with adenovirus and parainfluenza virus type III complicated the diagnosis and management of HLH.

  • 5

    Recognizing metabolic disorders as triggers for HLH can lead to more tailored management strategies and improved patient outcomes.

Original Source(s)

Immune dysregulation syndrome associated with inborn errors of metabolism – hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report

  • by Frances Fuenmayor, Santiago Chávez, Sofía Ortíz, Marcelo Guerrero, Melanie Orellana, Diego Veintimilla, Inés Fernández, Leonel Meza

  • June 12, 2026

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