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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

Human and Molecular Genetics Publications

Four children with biotinidase deficiency were identified during the first year of a neonatal screening program for this disease in the Commonwealth of Virginia. Two unrelated probands were identified among the 81,243 newborn infants who were screened. In addition, two siblings of one of these infants were found to be affected. Both probands had mild neurologic symptoms at two and four months, respectively, and the two older children had more severe neurologic abnormalities, cutaneous findings, and developmental delay at two and three years of age. However, none of the affected children had acute metabolic decompensation. Previous studies have shown that …