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 in Gaziantep, Turkey. Isikay is rated as an Elite expert by MediFind in the treatment of L-2-Hydroxyglutaric Aciduria. Their top areas of expertise are L-2-Hydroxyglutaric Aciduria, Congenital Contractures, Arthrogryposis Multiplex Congenita, and Celiac Disease.

Xin-nong Li
Advanced in L-2-Hydroxyglutaric Aciduria
Dr. Xin-nong Li
Internal Medicine
Advanced in L-2-Hydroxyglutaric Aciduria
Dr. Xin-nong Li
Internal Medicine
6600 Mercy Court, Suite 130, 
Fair Oaks, CA 
916-961-3084
Experience:
44+ years
Languages Spoken:
English
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Accepting New Patients

Xin-nong Li is a primary care provider, practicing in Internal Medicine in Fair Oaks, California. Dr. Li has been practicing medicine for over 44 years and is rated as an Advanced provider by MediFind in the treatment of L-2-Hydroxyglutaric Aciduria. His top areas of expertise are L-2-Hydroxyglutaric Aciduria, Cirrhosis, Maturity Onset Diabetes of the Young, and Familial Combined Hyperlipidemia. Dr. Li is currently accepting new patients.

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

Ana Pop practices in Amsterdam, Netherlands. Ms. Pop is rated as a Distinguished expert by MediFind in the treatment of L-2-Hydroxyglutaric Aciduria. Her top areas of expertise are L-2-Hydroxyglutaric Aciduria, Succinic Semialdehyde Dehydrogenase Deficiency, GABA-Transaminase Deficiency, and Canavan Disease.

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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