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 language||English (US)|
|Number of pages||3|
|State||Published - Aug 1986|
ASJC Scopus subject areas
- Clinical Neurology