Original Publication Date
The New England Journal of Medicine
DOI of Original Publication
Date of Submission
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 the administration of biotin to affected children can be a lifesaving procedure that can reverse acute symptoms and prevent irreversible neurologic damage. Our findings demonstrate that subtle neurologic abnormalities may appear as early as at two months of age and that developmental abnormalities may occur even in the absence of episodes of overt metabolic decompensation. Since screening and treatment are both inexpensive and effective and the incidence of the disease is well within the range of that of other metabolic diseases for which screening is performed, biotinidase deficiency should be added to the group of metabolic diseases for which screening is done in the neonatal period. (N Engl J Med 1985; 313:16–9.)
From the New England Journal of Medicine, Wolf, B., Heard, G. S., Jefferson, L. G. et al., Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening Program, Vol. 313, Page 16, From the NEJM Archive. Copyright © 1985 Massachusetts Medical Society. Reprinted with permission.
Is Part Of
VCU Human and Molecular Genetics Publications