3-hydroxyisobutyric aciduria
3 hydroxyisobutyric aciduria is characterized 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.
MONDO:0019215
classic organic aciduria
is_a
3-hydroxyisobutyric aciduria
exact
disorder of valine metabolism
related