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HSD10 disease

(HSD10 • Disease)

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

Elevated C5-OH acylcarnitine

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

Condition Details

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
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