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Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency

MedGen UID:
924335
•Concept ID:
C4283745
•
Disease or Syndrome
Synonyms: Methacrylic aciduria; Valine metabolic defect
SNOMED CT: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (722488009); Methacrylic aciduria (722488009); Valine metabolic defect (722488009)

Definition

Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, Yaplito-Lee J, Ferdinandusse S, Pitt J
Brain 2014 Nov;137(Pt 11):2903-8. Epub 2014 Aug 14 doi: 10.1093/brain/awu216. PMID: 25125611
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S
Orphanet J Rare Dis 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. PMID: 24299452Free PMC Article
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ
Am J Hum Genet 2007 Jan;80(1):195-9. Epub 2006 Nov 30 doi: 10.1086/510725. PMID: 17160907Free PMC Article

Prognosis

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, Yaplito-Lee J, Ferdinandusse S, Pitt J
Brain 2014 Nov;137(Pt 11):2903-8. Epub 2014 Aug 14 doi: 10.1093/brain/awu216. PMID: 25125611

Clinical prediction guides

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S
Orphanet J Rare Dis 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. PMID: 24299452Free PMC Article

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