Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child

Eresha Jasinge, Mihika Fernando, Neluwa Liyanage R. Indika, Roberta Trunzo, Sabine Schröder, Dinesha Maduri Vidanapathirana, Patricia M. Jones, Subashini Jayasena, Anusha Varuni Gunarathne, Pyara Ratnayake

Research output: Contribution to journalArticlepeer-review


Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid in urine. We describe a 3 year old Sri Lankan boy who was referred at age 10 months with poor weight gain and hypotonia for further laboratory investigations. In addition to global developmental delay, there were noticeable dysmorphic features with a prominent forehead, low-set ears, micrognathia, and hypertelorism with persistent neutropenia. Urine organic acid assay revealed a massive elevation of fumaric acid on 2 occasions. Molecular analysis revealed a homozygous likely pathogenic missense variant, NM000143.3:c.1048C>T p. (Arg350Trp), in the FH gene, confirming the biochemical diagnosis. Our patient was the first patient in Sri Lanka molecularly diagnosed with fumaric aciduria. This case study highlights the importance of performing organic acid assays in children presenting with neurologic manifestations especially when these are suspected to have a metabolic basis.

Original languageEnglish (US)
Pages (from-to)E48-E50
JournalLab Medicine
Issue number3
StatePublished - May 1 2022


  • encephalopathy
  • fumarate hydratase deficiency
  • fumaric aciduria
  • neutropenia
  • tricarboxylic acid cycle
  • urine organic acids

ASJC Scopus subject areas

  • Medicine(all)


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