Preliminary experiences with screening of 24,300 newborns detected 1 infant with biotinidase deficiency at the Depts of Paediatrics, Univ of Verona, Policlinic Borgo Roma, Verona, Italy, and the Hosp for Sick Children, Toronto, Canada. The patient was a full-term baby girl with uncomplicated delivery and a positive family history for seizures in an aunt who had died at 8 months of age. At 2 months of life, the infant developed dermatitis and sparse scalp hair followed by multifocal motor seizures resistant to anticonvulsant drugs. Neurological exam showed hypertonia and hyperreflexia, the EEG revealed increased slow wave activity, and the CT finding was a mild cortical atrophy. Large amounts of 2-oxoglutarate and small amounts of 3-hydroxyisovalerate were found on chromatographic examination of the urine. Treatment with 10 mg/biotin daily resulted in complete recovery within 2-3 days. [1]

COMMENT. The authors consider that biotinidase deficiency is as common as other well-known metabolic disorders and satisfies all criteria for inclusion into neonatal mass screening programs for inborn errors of metabolism. The absence of the expected organic acidopathy noted in the present case-report confirms the need for biotinidase enzyme estimations in diagnosis.