This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
HSD10 disease (also known as 2-methyl-3-hydroxybutyric aciduria) is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. HSD10 disease is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.
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