HSD10 Mitochondrial Disease

Signs and symptoms

After normal or near-normal early development, children typically lose skills from infancy or early childhood, with seizures, movement problems and loss of vision and hearing. Heart muscle disease (cardiomyopathy) is common. Lactic acidosis has been reported, and raised isoleucine breakdown products are also seen. Severity varies, from rapidly progressive infantile forms to milder cases with intellectual disability.

What a diagnosis changes

Care is supportive, with heart monitoring, seizure treatment, nutritional support and developmental care. Genetic counselling is recommended; carrier testing for female relatives and testing of the mother help clarify recurrence risk.

Genes analysed

Also known as

17 beta-hydroxysteroid dehydrogenase type 10 deficiency; 17-beta-hydroxysteroid dehydrogenase 10 deficiency; 17-beta-hydroxysteroid dehydrogenase X deficiency; 2-methyl-3-hydroxybutyric aciduria; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; 2M3HBA; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency; 3-hydroxyacyl-CoA dehydrogenase 2 deficiency; 3H2MBD deficiency; chorioathetosis with mental retardation and abnormal behavior; chorioathetosis with mental retardation and abnormal behaviour; HSD10 deficiency; HSD10 deficiency, atypical type; HSD10 mitochondrial disease, X-linked dominant; HSD10MD; HSD17B10 deficiency; hydroxyacyl-CoA dehydrogenase II deficiency; mental retardation, X-linked, syndromic 10; mental retardation, X-linked, syndromic type 10; MHBD deficiency; MRXS10; syndromic X-linked intellectual disability type 10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome; X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome