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Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts

MedGen UID:
1853198
•Concept ID:
C5872959
•
Finding
HPO: HP:4000210

Definition

Activity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts

Conditions with this feature

Isovaleryl-CoA dehydrogenase deficiency
MedGen UID:
82822
•Concept ID:
C0268575
•
Disease or Syndrome
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).
See: Condition Record
Isovaleryl-CoA dehydrogenase deficiency

Professional guidelines

PubMed

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale OM, Koppes EA, Alodaib AN, Kochersperger C, Karunanidhi A, Mohsen AW, Vockley J
Mol Genet Metab 2021 Sep-Oct;134(1-2):29-36. Epub 2021 Aug 30 doi: 10.1016/j.ymgme.2021.08.012. PMID: 34535384Free PMC Article

Recent clinical studies

Etiology

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.
Amendt BA, Rhead WJ
J Clin Invest 1985 Sep;76(3):963-9. doi: 10.1172/JCI112096. PMID: 3840178Free PMC Article

Diagnosis

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale OM, Koppes EA, Alodaib AN, Kochersperger C, Karunanidhi A, Mohsen AW, Vockley J
Mol Genet Metab 2021 Sep-Oct;134(1-2):29-36. Epub 2021 Aug 30 doi: 10.1016/j.ymgme.2021.08.012. PMID: 34535384Free PMC Article

Clinical prediction guides

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F
J Pediatr 1994 Jan;124(1):79-86. doi: 10.1016/s0022-3476(94)70257-8. PMID: 8283379

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