Learn About L-2-Hydroxyglutaric Aciduria

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 in the L2HGDH gene and is inherited in an autosomal recessive manner.
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What are the alternative names for L-2-Hydroxyglutaric Aciduria?
  • L-2-hydroxyglutaric aciduria
  • L-2-hydroxyglutaric acidemia
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for L-2-Hydroxyglutaric Aciduria?
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis.
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