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
Who are the top L-2-Hydroxyglutaric Aciduria Local Doctors?
SI
Sedat Isikay
Elite
Highly rated in
9
conditions

Faculty Of Health Sciences, Hasan Kalyoncu University

Department Of Pediatrics, School Of Medicine, 
Gaziantep, TR 

Sedat Isikay practices in Gaziantep, Turkey. Isikay is rated as an Elite expert by MediFind in the treatment of L-2-Hydroxyglutaric Aciduria. They are also highly rated in 9 other conditions, according to our data. Their top areas of expertise are L-2-Hydroxyglutaric Aciduria, Congenital Contractures, Arthrogryposis Multiplex Congenita, and Celiac Disease.

AP
Ana Pop
Distinguished
Highly rated in
2
conditions

Vrije Universiteit Amsterdam

Metabolic Unit, Amsterdam University Medical Centers, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, 
Amsterdam, NH, NL 

Ana Pop practices in Amsterdam, Netherlands. Pop is rated as a Distinguished expert by MediFind in the treatment of L-2-Hydroxyglutaric Aciduria. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are L-2-Hydroxyglutaric Aciduria, Succinic Semialdehyde Dehydrogenase Deficiency, GABA-Transaminase Deficiency, and Inborn Amino Acid Metabolism Disorder.

 
 
 
 
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GS
Gajja S. Salomons
Distinguished
Highly rated in
21
conditions

Vrije Universiteit Amsterdam

Amsterdam Movement Sciences, 
Amsterdam, NH, NL 

Gajja Salomons practices in Amsterdam, Netherlands. Salomons is rated as a Distinguished expert by MediFind in the treatment of L-2-Hydroxyglutaric Aciduria. They are also highly rated in 21 other conditions, according to our data. Their top areas of expertise are Guanidinoacetate Methyltransferase Deficiency, Malonyl-CoA Decarboxylase Deficiency, L-2-Hydroxyglutaric Aciduria, and X-Linked Creatine Deficiency.

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Who are the sources who wrote this article ?

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.
Condition: Hydroxyglutaric Aciduria Disease
Journal: Metabolic brain disease
Treatment Used: Antioxidant Treatment.
Number of Patients: 32
Published: December 01, 2018
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