HSD10 disease, infantile type

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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

A clinical subtype of HSD10 disease a rare neurometabolic disorder. Affected boys may show lethargy poor feeding and evidence of mitochondrial dysfunction in the newborn period with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy which usually manifests between ages 6 months and 2 years with developmental regression progressive visual and hearing loss epilepsy and other neurological symptoms and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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