Search
methacrylic aciduria; beta-hydroxyisobutyryl CoA deacylase (HIBCH) deficiency
Pathology:
- accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups
Genetics:
- associated with defects in HIBCH gene
Clinical manifestations:
- delayed development of motor skills
- hypotonia
- initial poor feeding
- deterioration in neurological function during first stages of life
Laboratory:
- 3-hydroxyisobutyryl-CoA hydrolase in fibroblasts
General
amino acid inborn error of metabolism
Database Correlations
OMIM 250620
References
OMIM :accession 250620