L-2-Hydroxyglutaric Aciduria
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L-2-Hydroxyglutaric Aciduria Overview

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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.
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?
Elite in L-2-Hydroxyglutaric Aciduria
Sedat Isikay
Elite in L-2-Hydroxyglutaric Aciduria
Sedat Isikay
Gaziantep, TR 

Sedat Isikay practices practicing medicine 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 clinical expertise encompasses L-2-Hydroxyglutaric Aciduria, Congenital Contractures, Arthrogryposis Multiplex Congenita, and Celiac Disease.

Distinguished in L-2-Hydroxyglutaric Aciduria
Ana Pop
Distinguished in L-2-Hydroxyglutaric Aciduria
Ana Pop
Amsterdam, NH, NL 

Ana Pop practices practicing medicine in Amsterdam, Netherlands. Ms. Pop is rated as a Distinguished expert by MediFind in the treatment of L-2-Hydroxyglutaric Aciduria. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses L-2-Hydroxyglutaric Aciduria, Succinic Semialdehyde Dehydrogenase Deficiency, GABA-Transaminase Deficiency, and Canavan Disease.

 
 
 
 
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Distinguished in L-2-Hydroxyglutaric Aciduria
Eduard A. Struys
Distinguished in L-2-Hydroxyglutaric Aciduria
Eduard A. Struys
Amsterdam, NH, NL 

Eduard Struys practices practicing medicine in Amsterdam, Netherlands. Mr. Struys is rated as a Distinguished expert by MediFind in the treatment of L-2-Hydroxyglutaric Aciduria. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses L-2-Hydroxyglutaric Aciduria, Chondrosarcoma, West Syndrome, and Epilepsy in Children.

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What are the latest L-2-Hydroxyglutaric Aciduria Clinical Trials?
Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
Enrollment Status: Recruiting
Publish Date: November 19, 2024
Intervention Type: Other

Summary: General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.

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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