Delayed-onset profound biotnidase deficiency

[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 :

Pages :

362-365

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 07 June 2014

Statistics

Number of views

81 (5 by ULiège)

Number of downloads

1 (0 by ULiège)

More statistics

Scopus citations^®

Scopus citations^®
without self-citations

OpenCitations

OpenAlex citations

Bibliography

B Wolf GL Feldman The biotin-dependent carboxylase deficiencies Am J Hum Genet 34 1982 699 716
GS Heard B Wolf JK Reddy Pancreatic biotinidase activity: the potential for intestinal processing of dietary protein-bound biotin [abstract] Pediatr Res 18 1984 198A
J Hymes K Fleischhauer B Wolf Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency Biochem Molec Med 56 1995 76 83
B Wolf RE Grier RJ Allen SI Goodman CL Kien Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency Clin Chim Acta 131 1983 273 281
B Wolf RE Grier RJ Allen SI Goodman CL Kien WD Parker Phenotypic variation in biotinidase deficiency J Pediatr 103 1983 233 237
B Wolf Disorders of biotin metabolism 7th ed CR Scriver AL Beaudet WS Sly D Valle The metabolic and molecular bases of inherited disease 1995 McGraw-Hill New York 3151 3180
B Wolf Worldwide survey of neonatal screening for biotinidase deficiency J Inherit Metab Dis 14 1991 923 927
B Wolf GS Heard KA Weissbecker Secor McVoy Jr RE Grier RT Leshner Biotinidase deficiency: initial clinical features and rapid diagnosis Ann Neurol 18 1985 614 617
IT Lott S Lottenberg WL Nyhan MJ Buchsbaum Cerebral metabolic changes after treatment in biotinidase deficiency J Inherit Metab Dis 16 1993 399 407
VTh Ramaekers TM Suormala M Brab R Duran G Heimann ER Baumgartner A biotinidase Km variant causing late onset bilateral optic neuropathy Arch Dis Child 67 1992 115 119
N Diamantopoulos MJ Painter B Wolf GS Heard C Roe Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin Neurology 36 1986 1107 1109
A Tokatli T Coskun I Ozalp Biotinidase deficiency with neurological features resembling multiple sclerosis in a 15-year-old girl J Inherit Metab Dis 20 1997 707 708
VT Ramaekers M Brab G Rau G Heimann Recovery from neurological deficits following biotin treatment in a biotinidase Km variant Neuropediatrics 24 1993 98 102
PS Hart J Hymes B Wolf Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency Am J Hum Genet 50 1992 126 136
RJ Pomponio J Hymes TR Reynolds GA Meyers K Fleischhauer GA Buck Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: biochemical and clinical analysis Pediatr Res 42 1997 840 848
H Cole TR Reynolds GB Buck JM Lockyer T Denson JE Spence Human serum biotinidase: cDNA cloning, sequence and characterization J Biol Chem 269 1994 6566 6579
RJ Pomponio KJ Norrgard TR Reynolds J Hymes GA Buck B Wolf Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of biotinidase deficiency in symptomatic children with biotinidase deficiency Hum Genet 99 1997 506 512
B Wolf Disorders of biotin metabolism: treatable neurological syndromes R Rosenberg SB Prusiner S Di Mauro RL Barchi LM Kunkel The molecular and genetic basis of neurological disease 1992 Butterworth Publishers Stoneham (MA) 569 581