Overview
HSD10 disease, infantile type, is a very rare genetic condition that affects how the body processes certain substances and how the mitochondria (the energy-producing parts of cells) function. It is also known as 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency or 17beta-hydroxysteroid dehydrogenase type 10 (HSD17B10) deficiency. The disease is caused by changes (mutations) in the HSD17B10 gene located on the X chromosome, which means it primarily affects boys, though carrier females can sometimes show milder symptoms. In the infantile type, babies typically appear normal at birth but begin showing symptoms within the first few months to the first two years of life. Key symptoms include progressive loss of previously acquired skills (developmental regression), seizures, problems with movement and coordination, and a weakening of the heart muscle (cardiomyopathy). Many affected children also experience vision and hearing problems. The disease tends to worsen over time because the mitochondria cannot produce enough energy for the brain, heart, and other organs. Unfortunately, there is currently no cure for HSD10 disease, infantile type. Treatment is supportive and focuses on managing symptoms such as seizures, heart problems, and nutritional needs. Some patients may receive therapies aimed at supporting mitochondrial function, but these have limited effectiveness. The prognosis for the infantile form is generally poor, with many children experiencing significant disability and shortened lifespan. Early diagnosis through genetic testing is important to provide the best possible supportive care and family planning guidance.
Also known as:
Key symptoms:
Loss of previously learned skills (developmental regression)Seizures or epilepsyWeak or floppy muscles (hypotonia)Problems with movement and coordinationWeakening of the heart muscle (cardiomyopathy)Vision loss or visual impairmentHearing lossIntellectual disabilityDifficulty feeding or swallowingFailure to grow and gain weight normallyAbnormal movements or tremorsSpeech and language delaysIrritability and excessive crying
Clinical phenotype terms (50)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for HSD10 disease, infantile type.
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Specialists
View all specialists →No specialists are currently listed for HSD10 disease, infantile type.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to HSD10 disease, infantile type.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific mutation was found in my child's HSD17B10 gene, and what does it mean for the expected disease course?,What monitoring schedule do you recommend for the heart, brain, vision, and hearing?,What seizure medications are safest and most effective for my child?,Are there any mitochondrial supplements or experimental treatments worth trying?,Should other family members, especially females, be tested for carrier status?,What palliative care and support services are available for our family?,Are there any clinical trials or research studies we could participate in?
Common questions about HSD10 disease, infantile type
What is HSD10 disease, infantile type?
HSD10 disease, infantile type, is a very rare genetic condition that affects how the body processes certain substances and how the mitochondria (the energy-producing parts of cells) function. It is also known as 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency or 17beta-hydroxysteroid dehydrogenase type 10 (HSD17B10) deficiency. The disease is caused by changes (mutations) in the HSD17B10 gene located on the X chromosome, which means it primarily affects boys, though carrier females can sometimes show milder symptoms. In the infantile type, babies typically appear normal at birth
How is HSD10 disease, infantile type inherited?
HSD10 disease, infantile type follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does HSD10 disease, infantile type typically begin?
Typical onset of HSD10 disease, infantile type is infantile. Age of onset can vary across affected individuals.