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GTR Home > Conditions/Phenotypes > Isovaleryl-CoA dehydrogenase deficiency

Isovaleryl-CoA dehydrogenase deficiency

Synonyms
ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY; IVD DEFICIENCY; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Isovaleric acidemia (IVA) is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood (summary by Vockley et al., 1991). [from OMIM]

Available tests

83 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (83 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACAD2, IVDH, IVD
    Summary: isovaleryl-CoA dehydrogenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5 Acylcarnitine, Isovaleric Acidemia, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Isovaleric Acidemia: Increased C5 (isolated), 2022

Molecular resources

Consumer resources

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