Article (Scientific journals)
Delayed-onset profound biotnidase deficiency
Wolf, B.; Pomponio, R.; Norrgard, K. et al.
1998In Journal of Pediatrics, 132 (2), p. 362-365
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Keywords :
Acyltransferases; Adolescent; Age of Onset; Amidohydrolases; Biotinidase; Child; Female; Humans; Male; Metabolism, Inborn Errors; Mutation
Abstract :
[en] Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We describe four children who had symptoms later in childhood or during adolescence; they had motor limb weakness, spastic paresis, and eye problems, such as loss of visual acuity and scotomata, rather than the more characteristic symptoms observed in young untreated children with the disorder. These older children each have different mutations, but they are the same as those of children who have exhibited symptoms at on early age. Biotinidase deficiency should be considered in older children who suddenly experience limb weakness and/or spastic paresis and eye symptoms.
Disciplines :
Neurology
Pediatrics
Author, co-author :
Wolf, B.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Pomponio, R.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Norrgard, K.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Lott, I.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Baumgartner, E. R.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Suormala, T.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
RAMAEKERS, Vincent ;  University of Aachen, Germany > Pediatrics > Pediatric Neurology
Coskun, T.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Tokatli, A.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Ozalp, I.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Hymes, J.;  Department of Human Genetics, Medical College of Virginia, P.O. Box 980033, Richmond, VA 23298, United States
Language :
English
Title :
Delayed-onset profound biotnidase deficiency
Publication date :
1998
Journal title :
Journal of Pediatrics
ISSN :
0022-3476
eISSN :
1097-6833
Publisher :
Mosby, St. Louis, United States - Missouri
Volume :
132
Issue :
2
Pages :
362-365
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 June 2014

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