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2-Hydroxyglutaricaciduria

Hereditary neurometabolic disorders characterized by DEVELOPMENTAL DELAY; EPILEPSY; HYPOTONIA, and dysmorphic features. Severe cases of D2HGA are homogeneous and are characterized by early infantile-onset epileptic encephalopathy and, CARDIOMYOPATHY. The mild phenotype has a more variable clinical presentation. In L2HGA, patients may also present with ATAXIA; MEGALENCEPHALY, and speech difficulties and the condition deteriorates over time. Mutations in the D2HGDH gene have been identified for D2HGA (OMIM: 600721) and the L2HGDH gene for L2HGA (OMIM: 236792).
Also Known As:
2-Hga; 2-Hydroxyglutaric Aciduria; Combined D-2- and L-2-hydroxyglutaric aciduria; D-2-HGA; D-2-Hydroxyglutaric Acidemia; D-2-hydroxyglutaric aciduria; D-2-hydroxyglutaric and L-2-hydroxyglutaric aciduria; L-2-HGA; L-2-Hydroxyglutaric Acidemia; L-2-hydroxyglutaric aciduria
Networked: 119 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. 2-Hydroxyglutaricaciduria
2. Epilepsy (Aura)
3. Chondromatosis
4. Neoplasms (Cancer)
5. Megalencephaly

Experts

1. Jakobs, Cornelis: 13 articles (08/2017 - 01/2002)
2. Struys, Eduard A: 12 articles (01/2019 - 07/2003)
3. Wajner, Moacir: 12 articles (01/2018 - 01/2002)
4. Salomons, Gajja S: 10 articles (01/2019 - 02/2005)
5. Jakobs, C: 10 articles (11/2011 - 06/2000)
6. Salomons, G S: 7 articles (11/2011 - 06/2004)
7. Leipnitz, Guilhian: 6 articles (01/2018 - 01/2002)
8. Verhoeven, Nanda M: 6 articles (05/2007 - 07/2003)
9. Van Schaftingen, Emile: 5 articles (01/2020 - 11/2004)
10. Wannmacher, Clóvis M D: 5 articles (09/2005 - 01/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 2-Hydroxyglutaricaciduria:
1. Riboflavin (Vitamin B2)FDA LinkGeneric
2. Carnitine (L-Carnitine)FDA LinkGeneric
3. Lysine (L-Lysine)FDA Link
4. alpha-hydroxyglutarateIBA
5. AcidsIBA
6. Ketoglutaric Acids (Ketoglutaric Acid)IBA
7. EnzymesIBA
8. Oxidoreductases (Dehydrogenase)IBA
9. Proteins (Proteins, Gene)FDA Link
10. Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))IBA

Therapies and Procedures

1. Therapeutics
2. Protein-Restricted Diet (Diet, Protein Restricted)
3. Euthanasia (Mercy Killing)
4. Electrodes (Electrode)