A neurologist or a pediatrician skilled in the evaluation of a child who is neurologically impaired should perform follow-up examinations and procedures to document residual neurological injury. Ultimately, death can occur. Immunological disruption may result in fulminant fungal infections. With treatment, patients have an excellent prognosis and potential for a normal lifestyle. Due to the varied presentation in biotinidase deficiency and the potentially treatable nature, consider testing in children with unexplained seizures, encephalopathy, acidosis, optic atrophy, or paraparesis.
Testing remains relatively inexpensive to perform.
Because parents subsequently may have a similarly affected child, genetic counseling needs to be offered prior to pregnancy. Test all children for the deficiency. Report of a case with lethal outcome. Infantile spasms as the initial symptom of biotinidase deficiency. Skin Manifestations of Biotin Deficiency.