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HSD10 disease, infantile type

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.

Synonyms

  • 2-methyl-3-hydroxybutyric aciduria, classic type
  • 2-methyl-3-hydroxybutyric aciduria, infantile type
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
  • HSD10 deficiency, classic type
  • HSD10 deficiency, infantile type
  • HSD10 disease, classic type
  • MHBD deficiency, classic type
  • MHBD deficiency, infantile type
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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