Abstract:
UNLABELLED:Early recognition by newborn screening and oral biotin supplementation may prevent clinical and neurological deficits in profound biotinidase deficiency (residual plasma biotinidase activity <10%). In order to evaluate possible correlations of molecular characteristics, onset and continuation of treatment and clinical outcome, we investigated 21 patients detected by newborn screening and consecutive family investigations. In 18 patients found by newborn screening, the range of biotinidase activities was 0%-9% residual activity. Application of a sensitive HPLC assay enabled us to discriminate five patients with residual biotinidase activities <1%. Two patients with zero activities were homozygous for the G98:d7i3 mutation and three patients with activities <1% carried mutations G98:d7i3, R157H, and Q456H. The mutation spectrum of the remaining patients included T532M, A171T+D444H, V62M,C432W, and D444H. Evaluation of clinical and neuropsychological outcome showed that only patients with biotinidase activities <1% exhibited characteristic clinical symptoms within the first weeks of life whereas five patients with residual activities of 1.2%-4.6% did not develop clinical symptoms even when not treated until 3.5-21 years. In all patients treated with biotin within the first weeks of life, neuropsychological outcome was normal whereas abnormal in three out of five patients tested for IQ and treated after the age of 3.5 years. CONCLUSION:The clinical and molecular spectrum of profound biotinidase deficiency is heterogeneous. Early onset of symptoms is predicted by the presence of zero residual activity as measured by sensitive assays and by homozygosity for the G98:d7i3 mutation. In patients with higher residual activities and variable mutational spectrum, correlation with the onset and severity of symptoms cannot be made.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Möslinger D,Mühl A,Suormala T,Baumgartner R,Stöckler-Ipsiroglu Sdoi
10.1007/s00431-003-1351-3keywords:
subject
Has Abstractpub_date
2003-12-01 00:00:00pages
S46-9eissn
0340-6199issn
1432-1076journal_volume
162 Suppl 1pub_type
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journal_title:European journal of pediatrics
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pub_type: 杂志文章,随机对照试验
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