ABSTRACT
Seizures, ataxia, hypotonia, alopecia, periorificial cutaneous eruption, hearing loss, loss of vision, myelopathy, developmental delay; episodic metabolic acidosis, lactic acidemia, propionic acidemia, excretion of 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, methylcitric acid, and 3-hydroxypropionic acid in urine; and defective activity of biotinidase.
