Screening for Biotinidase Deficiency

Ian C.t. Lyon, Edwin A. Mitchell, Elizabeth K. Atherton, Dianne R. Webster, Barry Wolf, Gregory S. Heard, Walter E. Nance

Research output: Contribution to journalLetterpeer-review

2 Scopus citations


To the Editor: Wolf and others1 advocate neonatal screening for biotinidase deficiency. In a feasibility study, we found one infant with a positive test among the 8000 screened. A quantitative plasma assay of biotinidase levels confirmed the result. Levels of biotinidase that were half the normal levels were observed in the mother and in a half-sibling; these findings are consistent with an autosomal recessive inheritance. An examination of the baby at 34 days of age revealed no abnormalities. Biochemical evaluations were normal, as were auditory and visual evoked potentials and an electroretinogram. Treatment was begun with 10 mg of biotin…

Original languageEnglish (US)
Pages (from-to)1457
Number of pages1
JournalNew England Journal of Medicine
Issue number22
StatePublished - May 29 1986

ASJC Scopus subject areas

  • Medicine(all)


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