Neurologic symptoms of biotinidase deficiency: Possible explanation

Sharon F. Suchy, Julie Secor McVoy, Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1510-1511
Number of pages2
Issue number10
StatePublished - Oct 1985

ASJC Scopus subject areas

  • Clinical Neurology

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