L-2-hydroxyglutaric Aciduria
What's New
Last Posted: Jul 05, 2023
- Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.
Anikha Bellad, et al. Acta neurologica Belgica 2023 0 - Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors.
Rakheja Dinesh, et al. Pediatric blood & cancer 2011 0 (3) 379-83 - Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
Villani Anita et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e83-e90 - L-2-hydroxyglutaric aciduria
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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