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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism

Adnan Khan1, Bakhtyar Zahid1, Sarbiland Khan2

  • 1Pediatrics, Rehman Medical Institute, Peshawar, PAK.

Cureus
|April 8, 2020
PubMed

Insights

Isovaleric acidemia (IVA), a leucine metabolism disorder, was diagnosed in an infant presenting with fever and respiratory distress. Prompt supportive care and metabolic correction were initiated for this rare genetic condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Isovaleric acidemia (IVA) is an inherited metabolic disorder affecting leucine breakdown.
  • It results from a deficiency in the enzyme isovaleryl-CoA dehydrogenase (IVD).
  • This deficiency leads to toxic metabolite accumulation.

Keywords:
isovaleric acidemiametabolic acidosis

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