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

Nicholas Diamantopoulos, Michael J. Painter*, Barry Wolf, Gregory S. Heard, Charles Roe

*Corresponding author for this work

Research output: Contribution to journalArticle

32 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1107-1109
Number of pages3
JournalNeurology
Volume36
Issue number8
StatePublished - Aug 1986

ASJC Scopus subject areas

  • Clinical Neurology

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    Diamantopoulos, N., Painter, M. J., Wolf, B., Heard, G. S., & Roe, C. (1986). Biotinidase deficiency: Accumulation of lactate in the brain and response to physiologic doses of biotin. Neurology, 36(8), 1107-1109.