High incidence of partial biotinidase deficiency cases in newborns of Greek origin
| Autor: | Yannis Dotsikas, Sofia Biti, Vassiliki Georgiou, Konstantinos Papadopoulos, Kleopatra H. Schulpis, Georgia Thodi, Elina Molou, Yannis L. Loukas |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Heterozygote medicine.medical_specialty DNA Mutational Analysis Biotin Biology Compound heterozygosity Polymerase Chain Reaction Gastroenterology Asymptomatic chemistry.chemical_compound Internal medicine Genetics medicine Humans Biotinidase activity Chromatography High Pressure Liquid Enzyme Assays Biotinidase Deficiency Greece Biotinidase Genome Human Incidence Biotinidase deficiency Incidence (epidemiology) Homozygote Infant Newborn General Medicine medicine.disease Molecular analysis Enzyme Activation chemistry Mutation Female High incidence medicine.symptom |
| Zdroj: | Gene. 524:361-362 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/j.gene.2013.04.059 |
| Popis: | Biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early. 63,119 neonates were tested for BTD according to a 3-step protocol. Biotinidase activity was initially estimated through standard colorimetric method on dried blood spots, then the suspected samples were subjected to molecular analysis of the BT gene and determination of BT activity in serum through an HPLC method. 14 infants with partial BTD (incidence 1:4508) were detected. Nine of them were homozygotes (D444H/D444H), and 4 compound heterozygotes carrying D444H combined with Q456H, T532M, C186Y and R157H, respectively. All were asymptomatic and supplemented with 10mg biotin. Although the number of screened neonates is rather small, it may be suggested that the incidence of the partial BTD infants is the highest ever reported. Detection of BTD should be added to the Greek national neonatal screening program. |
| Databáze: | OpenAIRE |
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