HSD10 disease

HSD10 disease, also known as 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency or 17beta-hydroxysteroid dehydrogenase type 10 deficiency, is a rare inherited metabolic condition that primarily affects the brain and sometimes the heart. It is caused by changes (mutations) in the HSD17B10 gene located on the X chromosome. This gene provides instructions for making an enzyme that plays important roles in the mitochondria — the energy-producing parts of our cells. The enzyme is involved in breaking down certain amino acids (the building blocks of protein) and also plays a role in how mitochondria function overall. Boys are more severely affected than girls because the gene is on the X chromosome. In the most severe (neonatal) form, baby boys may show symptoms shortly after birth, including poor muscle tone, seizures, feeding difficulties, and a failing heart (cardiomyopathy). In a less severe infantile form, boys may develop normally at first but then lose skills they had already gained (developmental regression), develop movement problems, and experience seizures. Girls who carry one changed copy of the gene may have milder symptoms such as learning difficulties, mild intellectual disability, or behavioral issues, though some can be more significantly affected. There is currently no cure for HSD10 disease. Treatment focuses on managing symptoms, such as anti-seizure medications, cardiac care, physical therapy, and nutritional support. Research is ongoing, but the disease remains challenging to treat because the enzyme has multiple roles in the body beyond just breaking down amino acids. Early diagnosis through genetic testing is important for planning care and providing families with accurate genetic counseling.

Bring these to your next appointment

• Q1.What type of HSD10 disease does my child have, and how severe is the mutation?,What symptoms should I watch for that would require emergency medical care?,How often should my child have heart monitoring and brain imaging?,Are there any clinical trials or experimental treatments available for HSD10 disease?,What therapies (physical, occupational, speech) would benefit my child the most right now?,Should other family members, especially females, be tested for carrier status?,What is the best plan for managing illness or fever to prevent metabolic crises?

Common questions about HSD10 disease

Related conditions

Other rare diseases commonly researched alongside HSD10 disease.

• Beta-ketothiolase deficiency→
• Leigh syndrome→
• Propionic acidemia→