3-hydroxyisobutyric aciduria

3-hydroxyisobutyric aciduria is a rare metabolic disorder that affects the body's ability to process the amino acid valine. People with this condition experience episodes of ketoacidosis, along with cerebral anomalies and distinctive facial features. Only a few cases, about thirteen, have been described in scientific literature, highlighting the rarity of this disorder. The condition is classified as an organic aciduria, which means that it involves abnormal accumulation of acid compounds in the body. This disorder is thought to be inherited in an autosomal recessive manner, meaning that a child would need to inherit two copies of the mutant gene to develop the condition.

Common symptoms reported in the literature include ketoacidotic episodes, cerebral anomalies, and facial dysmorphism. These signs indicate that the condition affects both the brain and the general metabolism of proteins.

3-hydroxyisobutyric aciduria is caused by disruptions in the metabolism of valine. It is thought to be inherited in an autosomal recessive manner, which means that two copies of the gene variant (one from each parent) are needed for the condition to appear.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.