Sudden Death Associated With Biotinidase Deficiency (original) (raw)

Pediatrics, 1987

Abstract

To the Editor.— We report a case of sudden death in a patient with presumed biotinidase deficiency and emphasize the importance of suspecting this diagnosis in patients who present with compatible clinical findings. A nonconsanguineous couple was seen for genetic counseling following the death of their first child, a boy, at 23 months of age. A review of the history revealed that the child was normal until 5½ months of age when seizures developed which were eventually controlled with carbamazepine.

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