Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity

P. Suzanne Hart*, Brian O. Barnstein, Julie R. Secor McVoy, Reuben Matalon, Barry Wolf

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

We describe a method for more accurately determining residual biotinidase activity in sera of individuals with profound biotinidase deficiency. Using this method we found that there is a statistically significant difference in the means of residual serum enzyme activities of symptomatic children and those identified by newborn screening. A subgroup of children identified by screening have activities higher than any of the symptomatic population. These children may develop mild symptoms, may develop symptoms later in life, or may not develop symptoms at all.

Original languageEnglish (US)
Pages (from-to)41-45
Number of pages5
JournalBiochemical Medicine and Metabolic Biology
Volume48
Issue number1
DOIs
StatePublished - Aug 1992

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry

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