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

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/250620