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NEUROLOGY 1986;36:1107
© 1986 American Academy of Neurology

Biotinidase deficiency

Accumulation of lactate in the brain and response to physiologic doses of biotin

Nicholas Diamantopoulos, MD, Michael J. Painter, MD, Barry Wolf, MD, PhD, Gregory S. Heard, PhD and Charles Roe, MD

Department of Child Neurology (Drs. Diamantopoulos and Painter), University of Pittsburgh, Children's Hospital of Pittsburgh, Pittsburgh, PA; the Departments of Human Genetics and Pediatrics (Drs. Wolf and Heard), Medical College of Virginia, Richmond, VA; and the Division of Genetics and Metabolism (Dr. Roe), Duke University Medical Center, Durham, NC.

Biotinidase deficiency is the most common cause of late onset, biotin-responsive multiple carboxylase deficiency (MCD). We studied the two oldest known boys with this disorder who had high CSF content of lactate that could have contributed to the clinical disorder. The symptoms of these patients implied that near physiologic, rather than pharmacologic, doses of biotin may be sufficient for treatment.

Address correspondence and reprint requests to Dr. Painter, Children's Hospital of Pittsburgh, Department of Child Neurology, 125 DeSoto Street, Pittsburgh, PA 15213.

Supported by NIH grant AM 33022 and National Foundation March of Dimes grant 6–342.

Accepted for publication December 18, 1985.






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