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Prepair 1000+

Gene: IVD

Green List (high evidence)

IVD (isovaleryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000128928
EnsemblGeneIds (GRCh37): ENSG00000128928
OMIM: 607036, Gene2Phenotype
IVD is in 10 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

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. Characterized by acute metabolic decompensations (vomiting, poor feeding, lethargy, hypotonia, seizures, and a distinct odor of sweaty feet), typically triggered by fasting, (febrile) illness (especially gastroenteritis), or increased protein intake. Clinical deterioration often occurs within hours to days after birth. Additional manifestations include developmental delay, intellectual disability and/or impaired cognition, epilepsy, and movement disorder (tremor, dysmetria, extrapyramidal movements). Early treatment in those identified by newborn screening can significantly reduce morbidity and mortality.
>90% of variants detectable with sequencing. Limited information is available regarding genotype-phenotype correlations.
The pathogenic variant p.Ala311Val is particularly common in individuals identified through NBS and is associated with attenuated IVA in individuals who are homozygous or compound heterozygous for this variant. These individuals exhibit only mild elevations in metabolites and have an asymptomatic disease course. Additional IVD pathogenic variants can also result in attenuated IVA.
Created: 5 Mar 2025, 3:32 a.m. | Last Modified: 5 Mar 2025, 3:32 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Isovaleric acidemia, MIM #243500

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Isovaleric acidemia, 243500 (3)
OMIM
607036
Clinvar variants
Variants in IVD
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Isovaleric acidemia, 243500 (3) for gene: IVD

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IVD was added gene: IVD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)