Abstract
Ten patients with biotin-dependent, chronic progressive encephalopathies were studied retrospectively. In four patients, the underlying disease was either total or partial deficiency of biotinidase. In one patient, the disease was caused by a lack of holocarboxylase synthetase activity. Four patients presented with Leigh encephalopathy. However, a biochemical defect could not always be confirmed. All patients required the administration of large doses of biotin to maintain normal neurologic function.
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