Primary care
Recommendation 1
Management mostly depends on seizure control
2-Hydroxyglutaric aciduria
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Autosomal dominant/rescessive conditiont that causes progressive damage to the brain.
Common symptoms
Delayed developmentseizureshypotoniaabnormalities in the cerebrum causing impairment in muscle movementspeechvisionthinkingemotionand memory.
When to suspect
Recommendation 1
Brain MRI scans and chiral differentiation performed with GC-MS or liquid chromatography-tandem mass spectrometry
How to test
Recommendation 1
Brain MRI scans and chiral differentiation performed with GC-MS or liquid chromatography-tandem mass spectrometry
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
There is currently no specific treatment for L-2-hydroxyglutaric aciduria. Supportive and symptomatic measures are therefore recommended.
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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