17-beta-hydroxysteroid Dehydrogenase X Deficiency

About the Disease
Hsd10 Mitochondrial Disease, also known as 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, is related to syndromic x-linked intellectual disability type 10 and 2-methylbutyryl-coa dehydrogenase deficiency, and has symptoms including muscle spasticity, seizures and agitation. An important gene associated with Hsd10 Mitochondrial Disease is HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10). The drugs Rituximab and Bortezomib have been mentioned in the context of this disorder. Affiliated tissues include heart, bone marrow and liver, and related phenotypes are global developmental delay and hypertrophic cardiomyopathy

Common Targets
HSD17B10

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