HSD10 disease, 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.
MONDO:0010327
HSD10 mitochondrial disease
is_a
2-methyl-3-hydroxybutyric aciduria, classic type
exact
2-methyl-3-hydroxybutyric aciduria, infantile type
exact
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
exact
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
exact
HSD10 deficiency, classic type
exact
HSD10 deficiency, infantile type
exact
HSD10 disease, classic type
exact
MHBD deficiency, classic type
exact
MHBD deficiency, infantile type
exact