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Isovaleric Acidemia

  • IVD gene
Isovaleric acidemia (IVA) is an inborn error of leucine metabolism. The acute neonatal phenotype usually presents within the first 2 weeks of life with poor feeding, vomiting, decreased levels of consciousness, seizures, acidosis and hyperammonemia. A characteristic smell of "sweaty socks" may also be present during an acute illness. A chronic intermittent presentation may occur that is characterized by recurrent episodes of ketoacidosis, vomiting, lethargy, coma and varying degrees of developmental delay. Patients who survive the acute neonatal presentation have a similar clinical course as those with the chronic phenotype. Since the inception of MS/MS based newborn screening, a group of potentially asymptomatic patients has emerged with a mild biochemical phenotype. Mutations analysis is expected to identify a sequence variant in greater than 95% of patients with IVA.

Using genomic DNA obtained from buccal swabs (not accepted on infants) or blood (2mL for infants, 5mL for adults in EDTA), mutation analysis of the IVD gene is performed. GeneDx offers the option of first testing for the common IVD mutation in exon 9 (c.932 C>T) that is found in approximately two-thirds of newborns diagnosed with IVA by newborn screening and is homozygous in approximately 25% of these patients. If homozygosity for this mutation is not observed or the patient was not identified by newborn screening, the entire coding sequence and intron/exon boundaries of the IVD gene can be ordered. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
ISOVALERYL-CoA DEHYDROGENASE, isovaleryl CoA dehydrogenase, Isovaleryl-CoA, isovalerylglycine, Isovaleric Acid CoA Dehydrogenase deficiency, IVD deficiency

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