Now screening for biotinidase deficiency is performed routinely in several states and around the world. Prolonged symptoms prior to institution of biotin therapy may leave the patient with varying degrees of neurological sequelae, including mental retardation, seizures, and coma. Death may result from untreated profound biotinidase deficiency. Males and females appear to be affected equally, which is consistent with an autosomal recessive pattern of inheritance. This propensity to metabolic deterioration during stress may be a useful clue in the diagnosis of partial deficiency, though it also is a feature of other inborn errors of metabolism.
Symptoms are likewise responsive to biotin administration.
Sudden death is reported in association with presumed biotinidase deficiency, possibly due to seizures or brain stem dysfunction. Therefore, include biotinidase deficiency in the evaluation of sudden infant death syndrome, especially when other family members have possible clinical manifestations of biotinidase deficiency. The spectrum of clinical signs and symptoms is varied. Consider biotinidase deficiency at presentation of intractable seizures, acidosis, rash, or failure to thrive. Seizures most frequently were generalized, tonic-clonic or clonic, though myoclonic and infantile spasms were noted in a significant percentage.