Don’t fight 2-Hydroxyglutaric aciduria alone.Find your community on the free RareGuru App.
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA vary within the different types but, in general, may include delayed development; seizures; weak muscle tone (hypotonia); and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. The different types and subtypes are caused by different gene mutations and are inherited in an autosomal recessive pattern, except for a D-2HGA subtype, known as type II D-2-HGA, which is inherited in an autosomal dominant pattern. There is no cure yet. Treatment depends on the symptoms. Management mainly involves control of seizures when they are present.
Source: GARD Last updated on 05-01-20
There is still no established treatment. However, for the D,L-2HGA type (combined type) some researches had used either malate or citrate. During malate treatment, urinary malate concentration increased, but beyond that, no effects were observed. In contrast, treatment with citrate led to some good results, but more studies are needed to confirm the effectiveness of this treatment.
Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!