3-hydroxyisobutyric aciduria

MONDO:0009371

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.

Also known as: 3-hydroxyisobutyric aciduria, disorder of valine metabolism

0 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (1) Classic organic aciduria (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.