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Don’t fight 3-Hydroxyisobutyric aciduria alone.
Find your community on the free RareGuru App.3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, characteristic facial features and brain abnormalities. The exact underlying cause is not well understood; however, researchers believe some cases are caused by changes (mutations) in the _ALDH6A1 _gene and inherited in an autosomal recessive manner. Because it is so rare, there is limited evidence to support the effectiveness of treatment, but a protein-restricted diet and carnitine supplementation have been tried with varying degrees of success.
Source: GARD Last updated on 05-01-20
The signs and symptoms of 3-hydroxyisobutyric aciduria vary but may include:
The severity of the condition can also vary significantly from person to person. Some affected people may only experience mild attacks of vomiting with normal development, while others experience failure to thrive with severe intellectual disability and early death.
Last updated on 05-01-20
In many affected people, the exact underlying cause of 3-hydroxyisobutyric aciduria is poorly understood. Scientists believe that some cases are caused by changes (mutations) in the _ALDH6A1 _gene. This gene encodes an enzyme called methylmalonate semialdehyde dehydrogenase, which helps the body break down certain amino acids (the building blocks of protein) found in food. If this gene isn't working properly, the body is unable to break down the amino acids valine and thymine which leads to a build-up of toxic substances in the body and the many signs and symptoms of 3-hydroxyisobutyric aciduria.
Last updated on 05-01-20
Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 _gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition _and not be a carrier.
Last updated on 05-01-20
There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees of success.
Last updated on 05-01-20
The Organic Acidemia Association has an information page on organic acidemias. Click on Organic Acidemia Association to view the information page.
Last updated on 04-27-20
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