HSD10 mitochondrial disease HSD10 disease, infantile type MEDGEN:1843150 HSD10 disease, classic type 2-methyl-3-hydroxybutyric aciduria, infantile type GARD:0017622 2-methyl-3-hydroxybutyric aciduria, classic type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type MHBD deficiency, infantile type MONDO:0018322 Orphanet:391428 HSD10 deficiency, infantile type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type 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. HSD10 deficiency, classic type MHBD deficiency, classic type UMLS:C5680025