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| Disease found: | 2-Hydroxyglutaric aciduria |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal dominant/rescessive conditiont that causes progressive damage to the brain. [more info] |
| Signs and Symptoms: | Delayed development; seizures; hypotonia, abnormalities in the cerebrum causing impairment in muscle movement, speech, vision, thinking, emotion, and memory. [more info] |
| Diagnosis: | Brain MRI scans and chiral differentiation performed with GC-MS or liquid chromatography-tandem mass spectrometry [more info] |
| Treatment: | There is currently no specific treatment for L-2-hydroxyglutaric aciduria. Supportive and symptomatic measures are therefore recommended. [more info] |
| Clinical Management: | Management mostly depends on seizure control [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 |