ArticleMolecular genetics and metabolism reports2024
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants.
Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Identification of novel compound heterozygous variants in isovaleric acidemia with hyperammonemia: Implications for continuous renal replacement therapy management.Genes & diseases · 2026Article
- A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound HeterozygousClinical case reports · 2026Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isovaleric acidemia (IVA) is a rare autosomal recessive disorder that manifests as a deficiency of isovaleryl-CoA dehydrogenase (IVD), a key enzyme in leucine metabolism. The clinical presentations associated with IVD deficiency are variable and include feeding intolerance, vomiting, metabolic acidosis, ketonemia, "sweaty feet" odor, lethargy, coma and even death. Tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS) methods were used to perform organic acid analysis of blood and urine samples from IVA patients, and the genetic analysis included next generation sequencing (NGS) and Sanger sequencing of the
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