General Condition Information
Other Names
- 17 beta-hydroxysteroid dehydrogenase type 10 deficiency
- 2 methyl 3 hydroxybutyric aciduria
- 2-methyl 3 hydroxy butyric aciduria
- 2-methyl 3-hydroxy butyric aciduria
- 2-Methyl 3-OH Butyric Aciduria
- 2-methyl-3-hydroxy butyric aciduria
- 2-methyl-3-hydroxybutyric
- 2-methyl-3-hydroxybutyric acidemia
- 2-methyl-3-hydroxybutyric aciduria
- 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- 2-methyl-3hydroxybutyryl-CoA dehydrogenase deficiency
- 2M3HBA
- 3H2MBD deficiency
- HSD10 deficiency
- Hydroxyacyl-CoA dehydrogenase II deficiency
- MHBD deficiency
Condition Type
Birth Prevalence
It is unknown how many babies are born with this rare condition each year in the United States.
Screening Finding
What is hsd10 disease
HSD10 disease is an inherited (genetic) condition that affects the body’s ability to use energy correctly.
HSD10 is the name of an enzyme in your body that does many things, like building proteins that help make energy. It also helps you digest a part of some proteins called isoleucine.
If your baby does not have enough of this enzyme, they have trouble making energy and breaking down isoleucine. The parts of the body without enough energy become damaged. The condition also causes the buildup of substances that indicate that isoleucine is not being used correctly in the body.
This damage leads to the signs and symptoms of the condition, which are often life-threatening.
Newborn Screening and Follow-Up
Newborn screening for HSD10 disease is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
During screening, a special machine measures how much of certain substances (called acylcarnitines) are in your baby’s blood. The body produces these substances when it breaks down food. Babies with high levels of these substances might have HSD10 disease.
If your baby’s blood spot screening result for HSD10 disease is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result does not mean that your baby definitely has the condition. It does mean that your baby needs more follow-up testing. An out-of-range result can mean that your baby has one of several possible conditions. It is important to do follow-up testing to correctly identify the condition causing your baby’s result.
To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood and/or urine tests
- Genetic testing using a blood sample: this is the only way this condition can be diagnosed
You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems if they are not diagnosed and treated quickly.
False-positive newborn screening results for this condition are rare. Babies who are born early (premature) may have out-of-range results.
Some babies may have a false-positive result for HSD10 disease because their mother has high acylcarnitine levels. These babies do not have and will not develop HSD10 disease. More testing on both mom and baby will determine who has high acylcarnitine levels.
Condition Details
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Signs of HSD10 disease typically begin between 9 and 14 months of age. The condition tends to be more severe in boys than girls.
Signs of the condition in boys may include the following:
- Trouble with muscle movement
- No longer being able to do things they could do before (milestone regression)
- Loss of motor skills
- Floppy arms and legs (hypotonia)
- Vision loss
- Heart problems
- Seizures (epilepsy)
Signs of the condition in girls may include the following:
- Developmental delays
- Seizures (epilepsy)
The condition is caused by a change in the HSD17B10 gene. This gene gives the body instructions for making the HSD10 enzyme. HSD10 helps you make energy and digest a part of some proteins called isoleucine. It is not known what exactly causes the health problems in HSD10 disease.
Without a working HSD17B10 gene, your body cannot make enough HSD10 to properly make energy or digest isoleucine, causing significant damage.
HSD10 disease is a genetic condition. Babies inherit it from their biological (birth) parents. To learn more about genetic conditions, visit MedlinePlus Genetics.
- HSD10 disease is inherited in an X-linked recessive pattern. Babies inherit the condition on the X chromosome, which is one of the two sex chromosomes.
- When boys (who only have one X chromosome) receive one nonworking copy of the HSD17B10 gene from their mom, they have this condition. Dads cannot pass on this condition to their sons.
- Girls can receive a nonworking HSD17B10 gene from their mom or dad to have this condition.
- Girls who have one nonworking and one working copy of the HSD17B10 gene typically have less severe symptoms than girls with two nonworking copies or boys with one nonworking copy.
- Because this condition is linked to the X chromosome, it is much more common in boys than girls.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
Treatment and Management
It is important to talk to your health care provider about how to best care for your baby. Currently, the treatment options available cannot stop the progression of the condition. Health care providers will develop a plan that is tailored to the needs of each child.
Management may include:
- Diet low in certain proteins
- Regular and frequent meals and snacks