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| Disease found: | 3-Hydroxyisobutyric aciduria |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare metabolic condition in which the body is unable to breakdown certain amino acids, caused by changes in the ALDH6A1 gene and inherited in an autosomal recessive manner. [more info] |
| Signs and Symptoms: | Developmental delay, characteristic facial features (Long philtrum, Microtia, Triangular face, Micrognathia) and brain abnormalities (Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Cerebral cortical atrophy) [more info] |
| Diagnosis: | The diagnosis of 3-hydroxyisobutyric aciduria was made by gas chromatography/mass spectrometry analysis [more info] |
| Treatment: | Limited evidence to support the effectiveness of treatment, but a protein-restricted diet and carnitine supplementation have been tried with varying degrees of success. [more info] |
| Clinical Management: | Dietary restriction and dietary adherence [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |