Details of Disease

General Information of Disease (ID: DISB4WD7)

• Disease Name: 3-hydroxyisobutyryl-CoA hydrolase deficiency
• Synonyms: HIBCHD; valine metabolic defect; beta-hydroxyisobutyryl Coa deacylase deficiency; methacrylic acid toxicity; Beta-hydroxyisobutyryl-CoA deacylase deficiency; neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; HIBCH deficiency; 3-hydroxyisobutryl-CoA hydrolase deficiency; 3-hydroxyisobutyryl-CoA hydrolase deficiency; methacrylic aciduria
• Definition: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by 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. The mode of transmission has not yet been established.
• Disease Hierarchy:
  DIST3QU6: Valine metabolism disease
  DISCXXVK: Classic organic aciduria
  DISOGOR1: Inborn disorder of branched-chain amino acid metabolism
  DISB4WD7: 3-hydroxyisobutyryl-CoA hydrolase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009603
  MESH ID: C562803
  UMLS CUI: C0342738
  OMIM ID: 250620
  MedGen ID: 83349
  Orphanet ID: 88639
  SNOMED CT ID: 124427009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ECHS1	OTS0593S	Strong	Biomarker	[1]
HIBCH	OTU2VHWR	Definitive	Autosomal recessive	[2]

References

• [1] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.Hum Genet. 2015 Sep;134(9):981-91. doi: 10.1007/s00439-015-1577-y. Epub 2015 Jun 23.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.