Article
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.
Journal of inherited metabolic disease - 1 Jan 2003
László A, Schuler E A, Sallay E, Endreffy E, Somogyi Cs, Várkonyi A, Havass Z, Jansen K P, Wolf B
Abstract excerpt
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...
Topics
- Alleles
- Biotin
- Biotinidase
- DNA
- DNA Mutational Analysis
- Female
- Humans
- Hungary
- Infant, Newborn
- Male
- Metabolism, Inborn Errors
- Mutation, Missense
- Neonatal Screening
- Roma