Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies

@article{Lszl2004NeonatalSF,
  title={Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies},
  author={Aranka L{\'a}szl{\'o} and {\'E}. {\'A}. Schuler and {\'E}va Sallay and Emőke Endreffy and Csilla Szűcs Somogyi and {\'A}gnes R. V{\'a}rkonyi and Zolt{\'a}n Havass and K. P. Jansen and Barry Wolf},
  journal={Journal of Inherited Metabolic Disease},
  year={2004},
  volume={26},
  pages={693-698}
}
Summary: From 1989 to 2001, 1 336 145 newborns were screened for biotinidase deficiency in Hungary. Fifty-eight children with the disorder were identified as enzyme-deficient. We have characterized the clinical and biochemical features and mutations of 20 of these children. Eleven children had profound biotinidase deficiency, 7 had partial biotinidase deficiency, and 2 were found to be heterozygous for profound deficiency by mutation analysis. Seventeen different mutations were identified in… 
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Why screen newborns for profound and partial biotinidase deficiency?
  • B. Wolf
  • Medicine
    Molecular genetics and metabolism
  • 2015
Deficiência de biotinidase : aspectos clínicos , diagnósticos e triagem neonatal
TLDR
Biotinidase deficiency meets the World Health Organization criteria for neonatal screening because carriers are asymptomatic during this period of life, the disease’s high morbidity rate, and effective treatment with low cost.
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References

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TLDR
It is found that 18 of 19 randomly selected individuals with partial deficiency have the transversion missense mutation G1330>C, which substitutes a histidine for aspartic acid444 (D444H) in one allele of the biotinidase gene.
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Although a preponderance of mutations causing the production of truncated BTD protein occurs in symptomatic children with profound deficiency, preliminary studies fail to demonstrate clear genotype–phenotype correlations.
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TLDR
Neonatal screening for biotinidase deficiency has been conducted in 14 countries since 1984 and an estimated 1 in 123 individuals is heterozygous for the disorder.
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    Journal of Inherited Metabolic Disease
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TLDR
According to the preliminary results biotinidase deficiency satisfies all the criteria for incorporation into the national newborn mass screening, and is treated with daily supplementation of free biotin.
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TLDR
Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the same filter papers as used in the neonatal screening for phenylketonuria, and samples from normal infants are characteristically purple, whereas those from affected individuals are straw-colored.