Balkan Journal of Medical Genetics

PP170. ENZYMATIC DIAGNOSIS OF LYSOSMAL STORAGE DISEASES IN BULGARIA
SINIGERSKA I., Hassanova I., Vladimirova K., Kremensky I. National Genetic Laboratory .Laboratory of Molecular Patghology. University Hospital of Obstetrics and Gynecology Maichin domSofia, Bulgaria e-mail: sinigerska@mail.bg
*Corresponding Author:
page: 123

Abstract

The enzymatic diagnosis of LSD in Bulgaria has been introduced about 30 years ago. At present the postnatal and the prenatal diagnosis of 26 LSD, resulting from enzyme deficiency (from altogether 30 known), is possible. It is not practical to examine all known enzyme deficits in every particular case. Appropriate scheme of assays should be performed, depending on the observed key features.

More than 3000 patients, aged from several days up to 52 years, suspected of having LSD, from the whole country, as well as some patients from Macedonia and Serbia, have been referred to the laboratory for enzyme diagnosis. The correct diagnosis has been obtained on a total of 190 cases as follows:

MPS I

3

MPS IVB

1

MSD

2

Sialidosis

1

MPS II

14

MPS VI

8

MLD

26

Mucolipidosis II

6

MPS IIIA

7

GM1

27

Fabry

3

Mannosidosis

1

MPS III B

7

Niemann-Pick A&B

29

Tay-Sachs

2

Fucosidosis

1

MPS IIIC

1

Niemann-Pick C

1

Sandhoff

4

Wolman

1

MPS IV A

3

Gaucher

26

Krabbe

12

CESD

1

For 25-year period prenatal diagnosis has been attempted in 41 cases (13 of them with the cooperation of Dr.W. Kleijer, Department Clinical Genetics, Erasmus University, Rotterdam). In 11 cases (26.8% from all) the results have indicated affected fetuses and pregnancies had to be terminated. The diagnoses have been confirmed when fetal tissues were available.

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