Isovaleric Academia: IVD Gene Sequencing

Diagnostic Use

Isovaleric academia (IVA) is inherited in an autosomal recessive manner and result from mutations in the Isovaleryl CoA dehydrogenase (IVD) gene at chromosomal position 15q14. IVA is an organic aciduria resulting from disrupted amino acid (leucine) catabolism and characterised by excretion of non-amino organic acid in the urine (isovaleryl glycine). Three IVA phenotypes have been described: acute neonatal, chronic intermittent or asymptomatic, with marked intra- and interfamilial variability described.


Genetics - Molecular Pathology

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Constituent Tests


Isovaleryl CoA dehydrogenase

Turnaround Time

4 weeks

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