Screening for Biotinidase Deficiency
- 29 May 1986
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 314 (22) , 1457
- https://doi.org/10.1056/nejm198605293142220
Abstract
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 . . .Keywords
This publication has 4 references indexed in Scilit:
- Biotinidase deficiency: Initial clinical features and rapid diagnosisAnnals of Neurology, 1985
- Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening ProgramNew England Journal of Medicine, 1985
- Biotinidase deficiency: presymptomatic treatment.Archives of Disease in Childhood, 1985
- The Diagnosis of PhenylketonuriaAmerican Journal of Diseases of Children, 1980