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Neurologic symptoms of biotinidase deficiency

Possible explanation

From the Departments ot Human Genetics and Pediatrics, Medical College of Virginia, Richmond, VA.

We found that the activity of biotinidase is much lower in human and rat brain or human CSF than in serum or other tissues that have biotin-dependent carboxylase activity. The brain seems to be unable to recycle biotin and depends on biotin transferred across the blood-brain barrier. The biotin-deficient state that results from an inherited lack of biotinidase results in a moderate decrease in brain pyruvate carboxylase activity. This is followed by more severe accumulation of lactate in brain than in other organs, which may explain why affected children have neurologic symptoms before many peripheral features.

Address currespondence and reprint requests to Dr. Wolf. Department of Human Genetics. Medical College of Virginia, PO Box 33, MCV Station, Richmond, VA 23298.

Supported by grants from The National Institutes of Health (AM 25675 and AM 33022) and from the National Foundation-March of Dimes (6–342). This is paper #250 from the Department of Human Genetics of the Medical College of Virginia.

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