Introduction Pocket Metab Impressum
··· Diseases ··· Symptoms ··· Lab Parameters ··· Authors ··· Ramedis ··· BH4 Patient List of associated diseases and any hint to further information based on the descripton or synonyms to the accession number HMDB00694
L-2-Hydroxyglutaric acid
L-2-Hydroxyglutaric acid is a metabolite that accumulates in D-2-hydroxyglutaric aciduria (a neurometabolic disorder, OMIM 236792), and has been reported in multiple patients who have a clinical phenotype of progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and spongiform changes in the white matter (OMIM 600721) and Spondyloenchondrodysplasia (OMIM 271550).
Please note: All linked information should be double checked for accuracy!
  1. GLUTARIC ACIDURIA I
  2. GLUTARIC ACIDURIA II
  3. ALPHA-MANNOSIDOSIS
  4. 2-HYDROXYGLUTARIC ACIDURIA (D)
  5. 2-HYDROXYGLUTARIC ACIDEMIA (L)
Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann Götz. E-Mail: trefz_f@kreiskliniken-reutlingen.de
Last update 29.12.2009 07:05:52