Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening Program

Barry Wolf*, Gregory S. Heard, Linda G. Jefferson, Virginia K. Proud, Walter E. Nance, Karen A. Weissbecker

*Corresponding author for this work

Research output: Contribution to journalArticle

63 Scopus citations

Abstract

BIOTINIDASE deficiency is an autosomal recessive disorder in which there is an inability to cleave biotin from biocytin or other biotinylated peptides resulting from the degradation of endogenous carboxylases and an inability, therefore, to recycle the vitamin biotin.1,2 Patients with this disease may ultimately become biotin deficient during infancy or early childhood and have one or more of the following signs and symptoms: seizures, skin rash, alopecia, ataxia, hearing loss, developmental delay, or metabolic decompensation that can terminate in coma and death.3 Affected infants do not have abnormalities at birth, and all symptomatic patients treated thus far have improved markedly.

Original languageEnglish (US)
Pages (from-to)16-19
Number of pages4
JournalNew England Journal of Medicine
Volume313
Issue number1
DOIs
StatePublished - Jul 4 1985

ASJC Scopus subject areas

  • Medicine(all)

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