D-2-Hydroxyglutaric Aciduria
About the Disease
D-2-Hydroxyglutaric Aciduria 1, also known as d-2-hydroxyglutaric aciduria, is related to d-2-hydroxyglutaric aciduria 2 and combined d-2- and l-2-hydroxyglutaric aciduria, and has symptoms including dyspnea, seizures and stridor. An important gene associated with D-2-Hydroxyglutaric Aciduria 1 is D2HGDH (D-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Metabolism and "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". Affiliated tissues include brain, skeletal muscle and cortex, and related phenotypes are macrocephaly and intellectual disability
Common Targets
G728294 | G3417 | G3418 | G27295 | G6576
The "Target / Biomarker Review Report" is a comprehensive and customizable review of hundreds up to thousends of related scientific research literature by AI technology, covering specific information about the Target(s) / Biomarker(s) of your choice related to D-2-Hydroxyglutaric Aciduria, including but not limited to:
• general information;
• protein structure and compound binding;
• protein biological mechanisms;
• its importance;
• the target screening and validation;
• expression level;
• disease relevance;
• drug resistance;
• related combination drugs;
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