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GENATLAS PHENOTYPE
last update : 13/07/2006
Symbol IVA
Location 15q14-q15
Name isovaleric acidemia
Other name(s)
  • IVD deficiency . isovaleric acid CoA dehydrogenase deficiency
    • Corresponding gene IVD
    Main clinical features
  • recurrent acidosis, with ketosis, mild hyperammonemia, lethargy and coma, sweety feet during episodes, an unusual proportion of mutations leading to missplicing and exon skipping
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name isovaleryl CoA dehydrogenase (IVD)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal RNA aberrant mRNA splicing resulting in exon skipping
    Genotype/Phenotype correlations missense mutation, 932C>T (A282V), is particularly common in patients identified through newborn screening with mild metabolite elevation; mutation leads to a partially active enzyme with altered catalytic properties