Partial biotinidase deficiency: Clinical and biochemical features

Julie R. Secor McVoy, Harvey L. Levy, Michael Lawler, Michael A. Schmidt, Douglas D. Ebers, P. Suzanne Hart, Denise Dove Pettit, Miriam G. Blitzer, Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

67 Scopus citations


Neonatal screening for profound biotinidase deficiency (<10% of the mean normal activity level) has identified a group of children with partial biotinidase deficiency (10% to 30% of mean normal activity). Because partial biotinidase deficiency may result in clinical consequences that may be prevented by treatment with biotin, we evaluated such individuals and their family members (1) to determine whether partial biotinidase deficiency is associated with symptoms and (2) to determine the inheritance pattern. We quantified serum biotinidase activity levels and obtained medical histories of probands, their parents and siblings, and additional family members. All children with partial deficiency were healthy at the time of diagnosis. One child, who was not initially treated with biotin, later developed hypotonia, hair loss, and skin rash, which resolved with biotin therapy. Four adults and three children with partial biotinidase deficiency were identified among family members of infants identified by neonatal screening. All these individuals were healthy, although one sibling had elevated urinary lactate excretion. A fifth adult with partial deficiency, found among clinically normal adult volunteers, later showed minor symptoms that resolved after biotin therapy. Like children with profound biotinidase deficiency, children with partial biotinidase deficiency are symptom free at birth. However, the subsequent occurrence of symptoms of profound biotinidase deficiency in some persons with partial deficiency suggests that biotin therapy for this condition may be warranted.

Original languageEnglish (US)
Pages (from-to)78-83
Number of pages6
JournalThe Journal of pediatrics
Issue number1
StatePublished - Jan 1990

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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