3 hydroxyisobutyric aciduria
A rare metabolic disorder
| 3-Hydroxyisobutyric aciduria | |
|---|---|
| |
| Synonyms | 3-HIBA |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, hypotonia, metabolic acidosis |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Urine organic acid analysis, genetic testing |
| Differential diagnosis | Other organic acidurias |
| Prevention | N/A |
| Treatment | Dietary management, supplementation |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare disease |
| Deaths | N/A |
3-Hydroxyisobutyric aciduria is a rare metabolic disorder characterized by the accumulation of 3-hydroxyisobutyric acid in the body. This condition is caused by a deficiency in the enzyme responsible for the metabolism of valine, an essential amino acid.
Pathophysiology[edit | edit source]
3-Hydroxyisobutyric aciduria results from a defect in the valine catabolic pathway. Normally, valine is broken down into several intermediates, one of which is 3-hydroxyisobutyric acid. In individuals with this disorder, the enzyme responsible for further metabolizing 3-hydroxyisobutyric acid is deficient or absent, leading to its accumulation in the body.
Clinical Presentation[edit | edit source]
Patients with 3-hydroxyisobutyric aciduria may present with a variety of symptoms, which can include:
The severity and range of symptoms can vary widely among affected individuals.
Diagnosis[edit | edit source]
The diagnosis of 3-hydroxyisobutyric aciduria is typically made through urine organic acid analysis, which reveals elevated levels of 3-hydroxyisobutyric acid. Genetic testing can confirm the diagnosis by identifying mutations in the gene responsible for the enzyme deficiency.
Treatment[edit | edit source]
There is currently no cure for 3-hydroxyisobutyric aciduria. Treatment is primarily supportive and may include:
- Dietary management to limit valine intake
- Physical therapy to address developmental delays and hypotonia
- Anticonvulsant medications to control seizures
Prognosis[edit | edit source]
The prognosis for individuals with 3-hydroxyisobutyric aciduria varies depending on the severity of the enzyme deficiency and the effectiveness of supportive treatments. Early intervention and management can improve outcomes for some patients.
Related pages[edit | edit source]
NIH genetic and rare disease info[edit source]
3 hydroxyisobutyric aciduria is a rare disease.
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Contributors: Prab R. Tumpati, MD
