3-hydroxyisobutyryl-CoA hydrolase deficiency

Stable Identifier
R-HSA-9916722
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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3-hydroxyisobutyryl-CoA hydrolase deficiency
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3-hydroxyisobutyryl-CoA hydrolase deficiency is an autosomal recessive inborn error of metabolism caused by mutations in HIBCH, a mitochondrial enzyme that catalyzes the fifth step of the valine catabolic pathway (Hawes et al, 1996; Brown et al, 1982; Loupatty et al, 2007). Like mutations in ECHS1, the enzyme that catalyzes the third step of valine metabolism, HIBCH mutations result in accumulation of toxic metabolic intermediates and manifest clinically with severe psychomotor and developmental delays, neurodegeneration and brain lesions, characteristic of a Leigh-like syndrome (Brown et al, 1982; Loupatty et al, 2007; Ferdinandusse et al, 2013; Peters et al, 2015; Reuter et al, 2014; D'Gama et al, 2020; reviewed in Rahman et al, 2023).
Literature References
PubMed ID Title Journal Year
36813320 Leigh syndrome

Rahman, S

Handb Clin Neurol 2023
7122152 beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations

Hunt, SM, Truscott, RM, Cotton, RG, Danks, DM, Fowler, K, Scholem, R, Brown, GK, Grimes, A, Rogers, JG, Mercer, JF

Pediatrics 1982
25251209 HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders

Bähr, L, Ekici, AB, Mayr, JA, Rauh, M, Schanze, I, Uebe, S, Trollmann, R, Köhler, J, Reuter, MS, Leis, T, Sass, JO, Feichtinger, RG, Reis, A

Am J Med Genet A 2014
8824301 Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase.

Bunting, J, Harper, ET, Harris, RA, Shimomura, Y, Huang, B, Hawes, JW, Jaskiewicz, J

J Biol Chem 1996
24299452 HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Wanders, RJ, Rahman, S, Heales, SJ, Taanman, JW, Gunny, R, Hargreaves, IP, Waterham, HR, Clayton, PT, Brown, GK, Abulhoul, L, Leonard, JV, Ferdinandusse, S

Orphanet J Rare Dis 2013
26163321 Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Wanders, RJ, Peters, H, Boneh, A, Pitt, J, Ruiter, JP, Ferdinandusse, S

Mol Genet Metab 2015
32022391 A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

Yu, TW, Shi, J, Grant, PE, D'Gama, AM, Zhang, T, Juusola, J, Ferdinandusse, S, Genetti, CA, Agrawal, PB, Brucker, WJ, Kritzer, A, VanNoy, G, Gubbels, CS

Am J Med Genet A 2020
17160907 Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

Wanders, RJ, Duran, M, Harris, RA, Heales, SJ, Loupatty, FJ, Ruiter, JP, Ijlst, L, Thorburn, DR, Brown, GK, Clayton, PT, Ofman, R, Desousa, C, Krywawych, S

Am J Hum Genet 2007
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Disease
Name Identifier Synonyms
3-hydroxyisobutryl-CoA hydrolase deficiency DOID:0060949 Methacrylic aciduria, Valine metabolic defect, HIBCH deficiency
Authored
Rothfels, K  (2024-07-29)
Reviewed
D'Eustachio, P  (2024-08-18)
Created
Rothfels, K  (2024-07-25)
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