PP171. DIAGNOSIS OF INHERITED METABOLIC DISEASES IN BULGARIA
IVANOVA M., Sinigerska I. and Kremensky I. National Genetic Laboratory, Laboratory Of Molecular Pathology, Medical University - Sofia, Bulgaria e-mail: ivanovam@yahoo.com
*Corresponding Author:
page: 124

Abstract

Laboratory of Molecular Pathology offers modern and widely applicable genetic services for diagnosis and prophylactics of inherited metabolic diseases (IMD). The highly effective methods performed in Laboratory of Molecular Pathology allow opportunities for reliable specialized genetic analyses for other Balkan countries, which need genetic service. The Laboratory of Molecular Pathology provides services for 1 specialised clinic, 5 medico-genetic counselling and more than 70 paediatric and 119 neonatal units in Bulgaria. The laboratory performs: 1) Mass neonatal screening for PKU (up to now 1 700 000 newborns were screened, 86 patients with classical PKU were detected); 2) Selective screening program for over 70 inborn disorders of metabolism - during the period of 25 years, 8592 patients at high risk were included in the selective screening program. In total 611 patients (7.1%) were diagnosed in the basic groups of inherited metabolic diseases: Aminoacid disorders - 44; Urea cycle defects-13; Organic acidurias -53; Fatty acid oxadition disorders - 12; Peroxisomal disorders -9; Disorders of the renal transport - 61; Lactic acidurias - 5; Carbohydrate disorders-131; Glycoprotein degradation - 7; Mucopolysaccharidoses - 54; Ganglioside disorders -150; 3) Prenatal metabolic and enzymatic diagnosis (up to now 43 prenatal diagnoses for different metabolic disorders were performed). Our results can be assessed as a reasonably good and completely comparable to the data of the leading European genetic centres.

 




Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006