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Screening for Biotinidase Deficiency in Children with Unexplained Neurologic or Developmental Abnormalities

Student, Mayo Medical School

Richard D. Olsen, M.D.

Section of Community Pediatric Service, the Department of Medical Genetics, and the Section of Clinical Chemistry, Mayo Clinic and Foundation, Rochester, Minnesota

Virginia Michels, M.D.

Section of Community Pediatric Service, the Department of Medical Genetics, and the Section of Clinical Chemistry, Mayo Clinic and Foundation, Rochester, Minnesota

Michael A. Schmidt, M.D.

Section of Community Pediatric Service, the Department of Medical Genetics, and the Section of Clinical Chemistry, Mayo Clinic and Foundation, Rochester, Minnesota

John F. O'Brien, Ph.D.

Section of Community Pediatric Service, the Department of Medical Genetics, and the Section of Clinical Chemistry, Mayo Clinic and Foundation, Rochester, Minnesota

To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unexplained developmental delay or neurologic abnormalities than in the general population, we studied children seen at a large outpatient clinic over a four-year period who had one or more of these neurologic abnormalities and for whom no specific cause for their abnormalities could be found. The group totaled 274 children (163 boys; 111 girls) whose ages ranged from 2 weeks to 17 years. Characteristics were IQ/DQ, 30 to 70 in the 115 for whom scores were available; 41% had seizures; 15% had sensorineural hearing loss; 54% showed gross motor delay or ataxia; and 27% had decreased muscle tone. One patient with a classical clinical picture of biotinidase deficiency was diagnosed during the study period and was not included in the study.

None of the patients with nonclassic findings had a deficiency of biotinidase activity. Our results suggest that biotinidase deficiency does not account for a large proportion of children with unexplained neurologic abnormalities or developmental delay. This does not negate the importance of biotinidase testing in children with clinical patterns specifically suggestive of the deficiency.

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