ArticleClinical case reports2026
A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous
Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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7 authors.
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Abstract
To improve understanding of isovaleric acidemia (IVA) by analyzing the clinical features, genetic basis, and treatment outcomes of a child with chronic intermittent IVA. A 4-month-old infant presenting with lethargy, pallor, and growth retardation was diagnosed with IVA using tandem mass spectrometry (MS/MS), urinary organic acid analysis, and genetic testing. MS/MS and urine gas chromatography-mass spectrometry revealed elevated isovalerylcarnitine and isovalerylglycine. Whole-exome sequencing identified a novel homozygous
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