L-2-Hydroxyglutaric Aciduria

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of L-2-Hydroxyglutaric Aciduria?

L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations) in the L2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.

What are the alternative names for L-2-Hydroxyglutaric Aciduria?

  • L-2-hydroxyglutaric acidemia

Top Global Doctors

Eduard A. Struys
Amsterdam, NH, NL
Ana Pop
Amsterdam, NH, NL

Latest Research

Latest Advance
  • Condition: Hydroxyglutaric Aciduria Disease
  • Journal: Metabolic brain disease
  • Treatment Used: Antioxidant Treatment.
  • Number of Patients: 32
  • Published —
This study evaluated thiol/disulphide homeostasis as an indicator of oxidative stress in patients with L-2-hydroxyglutaric aciduria (genetic metabolic condition; L2HGA) who have been receiving antioxidant treatment.

Clinical Trials

There are no recent clinical trials available for this condition. Please check back because new trials are being conducted frequently.