Overview
HSD10 disease, neonatal type, is an extremely rare and severe 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 neonatal type is the most severe form of this disease, meaning symptoms appear at birth or within the first days of life. Babies born with the neonatal type often experience severe neurological problems, including seizures, poor muscle tone, and difficulty feeding. The disease also commonly affects the heart, leading to a condition called cardiomyopathy (weakened heart muscle). Because the mitochondria cannot produce energy properly, many organs in the body are affected. Babies may also have lactic acidosis, which means too much acid builds up in the blood. Unfortunately, the neonatal type of HSD10 disease is very serious and often life-threatening in early infancy. There is currently no cure, and treatment focuses on managing symptoms and supporting the baby's comfort and organ function. Research is ongoing, but treatment options remain very limited. Early diagnosis through genetic testing is important for family planning and supportive care decisions.
Also known as:
Key symptoms:
Seizures starting shortly after birthSevere low muscle tone (floppy baby)Difficulty feeding or inability to feedWeakened heart muscle (cardiomyopathy)Buildup of acid in the blood (lactic acidosis)Failure to grow and gain weightSevere developmental delayAbnormal eye movementsBreathing difficultiesLoss of previously gained skills (regression)Abnormal movementsVision problemsLiver problemsLethargy or excessive sleepiness
Clinical phenotype terms (9)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for HSD10 disease, neonatal type.
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Specialists
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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, neonatal type.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 is the expected course of this disease for my child specifically?,What symptoms should I watch for that would require emergency care?,Are there any treatments or clinical trials that might help my child?,How can we best manage my child's seizures and heart problems?,Should other family members be tested as carriers of this gene change?,What palliative care and support services are available for our family?,What does this diagnosis mean for future pregnancies?
Common questions about HSD10 disease, neonatal type
What is HSD10 disease, neonatal type?
HSD10 disease, neonatal type, is an extremely rare and severe 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 neonatal type is the most severe form of this disease, meaning symptoms appear at birth or within the first days of life. Babies born with the neonatal type often experience severe neurological problems, including seizures, poor muscle
How is HSD10 disease, neonatal type inherited?
HSD10 disease, neonatal 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, neonatal type typically begin?
Typical onset of HSD10 disease, neonatal type is neonatal. Age of onset can vary across affected individuals.