ICD-11 definition : 3-hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies
and facial dysmorphism. It is an organic aciduria that involves valine metabolism.
Thirteen cases have been described in the literature so far. Transmission is thought
to be autosomal recessive.;
3-hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies
and facial dysmorphism. It is an organic aciduria that involves valine metabolism.
Thirteen cases have been described in the literature so far. Transmission is thought
to be autosomal recessive.
Currated CISMeF NLP mapping