Isovaleric acidemia

Stable Identifier
R-HSA-9914355
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Isovaleric acidemia
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Isovaleric acidemia is an inborn error of metabolism that arises due to mutations in isovaleryl-CoA dehydrogenase (IVD), a mitochondrial enzyme that catalyzes the third step in the catabolic pathway for leucine, the conversion of isovaleryl-CoA and FAD to beta-methylcrotonyl-CoA and FADH2 (Tanaka et al, 1966; Finocchiaro et al. 1978; Rhead and Tanaka 1980). Isovaleric acidemia has variable clinical presentation and lacks a clear correspondence between genotypic alterations and phenotypic outcome (Vockley and Ensenauer, 2006). Symptoms include vomiting, seizures, low energy, and a characteristic sweaty foot odor due to presence of isovaleric acid, 3-hydroxyisovaleric acid, isovarleryl-glycine and isovaleryl-carnitine in blood and urine (Vockley et al, 1991; Mohsen et al, 1998; Zaki et al, 2017; Dercksen et al, 2012; D'Annibale et al, 2021).
Literature References
PubMed ID Title Journal Year
16602101 Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

Ensenauer, R, Vockley, J

Am J Med Genet C Semin Med Genet 2006
34535384 Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

Koppes, EA, Mohsen, AW, Kochersperger, C, Alodaib, AN, D'Annibale, OM, Karunanidhi, A, Vockley, J

Mol Genet Metab 2021
10832746 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.

Burlingame, TG, Hogema, B, Vockley, J, Rinaldo, P, Sacks, M, Kiss, D, Linck, L, Pohowalla, P, Gibson, KM, Roe, DS, Steiner, RD, Millington, D, Sweetman, L, Jakobs, C, Schutgens, RB

Pediatr Res 2000
6928646 Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.

Rhead, WJ, Tanaka, K

Proc Natl Acad Sci U S A 1980
5229850 Isovaleric acidemia: a new genetic defect of leucine metabolism

Isselbacher, KJ, Budd, MA, Efron, ML, Tanaka, K

Proc Natl Acad Sci U S A 1966
28535199 Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants

Murad, GG, Kumar D, T, Khalifa, O, Ebnou, MSA, Ali, SA, Nasr, BN, El Abd, HSA, Zaki, OK, Priya Doss C, G, Zayed, H, Elashi, SA, Gamal, R

Hum Mol Genet 2017
3597357 Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver.

Tanaka, K, Finocchiaro, G, Ito, M

J Biol Chem 1987
22350545 Clinical variability of isovaleric acidemia in a genetically homogeneous population

Ruiter, JP, Duran, M, Ijlst, L, Reinecke, CJ, Waterham, HR, Wanders, RJ, Mienie, LJ, Dercksen, M

J Inherit Metab Dis 2012
9665741 Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia

Mohsen, AW, Kim, JJ, Volchenboum, SL, Tiffany, K, Vockley, J, Roberts, D, Anderson, BD, Battaile, KP

Biochemistry 1998
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Name Identifier Synonyms
isovaleric acidemia DOID:14753 Isovaleryl-CoA dehydrogenase deficiency, isovaleric acid CoA dehydrogenase deficiency, isovaleric aciduria
Authored
Rothfels, K  (2024-07-29)
Reviewed
D'Eustachio, P  (2024-08-18)
Created
Rothfels, K  (2024-06-23)
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