3-hydroxyisobutyric aciduria is an inherited metabolic disorder caused by a deficiency of the enzyme 3-hydroxyisobutyryl-CoA hydrolase. This enzyme is responsible for breaking down 3-hydroxyisobutyric acid, a byproduct of the metabolism of certain amino acids. People with this disorder are unable to break down this acid, leading to a buildup of it in the body. Symptoms of 3-hydroxyisobutyric aciduria can include seizures, developmental delays, and intellectual disability.

The symptoms of 3-hydroxyisobutyric aciduria include:

-Poor feeding
-Vomiting
-Failure to thrive
-Developmental delay
-Seizures
-Lethargy
-Hypotonia
-Lactic acidosis
-Hyperammonemia
-Hyperglycemia
-Ketosis
-Hyperuricemia
-Hyperlipidemia
-Hyperammonemic encephalopathy
-Hepatomegaly
-Renal tubular acidosis

1. Deficiency of the enzyme 3-hydroxyisobutyryl-CoA hydrolase (HIBADH)
2. Deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase (MCC)
3. Deficiency of the enzyme methylmalonyl-CoA mutase (MUT)
4. Deficiency of the enzyme propionyl-CoA carboxylase (PCC)
5. Deficiency of the enzyme methylmalonyl-CoA epimerase (MCE)
6. Deficiency of the enzyme methylmalonyl-CoA racemase (MCR)
7. Deficiency of the enzyme methylmalonyl-CoA decarboxylase (MCD)
8. Deficiency of the enzyme isob

1. Dietary management: A low-protein diet is recommended to reduce the amount of 3-hydroxyisobutyric acid in the body.

2. Supplementation: Supplementation with carnitine, thiamine, and riboflavin may help reduce the levels of 3-hydroxyisobutyric acid in the body.

3. Medication: Medications such as sodium benzoate and sodium phenylbutyrate may be prescribed to reduce the levels of 3-hydroxyisobutyric acid in the body.

4. Enzyme replacement therapy: Enzyme replacement therapy may be used to replace the missing enzyme in the body that is responsible for breaking down 3-hydroxyisobutyric acid.

1. Genetic mutations in the HIBADH gene, which is responsible for the production of the enzyme 3-hydroxyisobutyryl-CoA dehydrogenase.

2. Deficiency of the enzyme 3-hydroxyisobutyryl-CoA dehydrogenase.

3. Exposure to certain environmental toxins, such as lead or mercury.

4. Certain medications, such as valproic acid or isoniazid.

5. Premature birth.

6. Low birth weight.

7. Family history of 3-hydroxyisobutyric aciduria.

At this time, there is no known cure for 3-hydroxyisobutyric aciduria. However, there are medications that can help manage the symptoms of the condition. These medications include carnitine supplements, which help to reduce the levels of 3-hydroxyisobutyric acid in the body, and anticonvulsants, which can help to reduce the frequency and severity of seizures. Additionally, dietary modifications may be recommended to help reduce the levels of 3-hydroxyisobutyric acid in the body.