17-beta-hydroxysteroid dehydrogenase 10 deficiency17-beta-hydroxysteroid dehydrogenase X deficiency2-methyl-3-hydroxybutyric aciduria2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency3-hydroxyacyl-CoA dehydrogenase 2 deficiencyHSD10 deficiencyHSD10 mitochondrial diseaseHSD10 mitochondrial disease, X-linked dominantHSD10MDHSD17B10 deficiencyMHBD deficiencyMRXS10chorioathetosis with mental retardation and abnormal behaviorchorioathetosis with mental retardation and abnormal behaviourmental retardation with chorioathetosis and abnormal behaviormental retardation with chorioathetosis and abnormal behaviourmental retardation, X-linked syndromic 10mental retardation, X-linked, syndromic 10mental retardation, X-linked, syndromic type 10HSD10 deficiency, atypical typeX-linked intellectual disability-choreoathetosis-abnormal behavior syndromeX-linked intellectual disability-choreoathetosis-abnormal behaviour syndromesyndromic X-linked intellectual disability type 1017 beta-hydroxysteroid dehydrogenase type 10 deficiency2M3HBA3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency3H2MBD deficiencyhydroxyacyl-CoA dehydrogenase II deficiency
Definition
A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
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