Tay Sachs disease is a lipid storage disease (sphingolipidosis) affecting the nervous system. The mode of inheritance is autosomal recessive with an incidence of 1 in 3600 and a carrier frequency of 3% in the Ashkenazi Jewish population. It is characterized by apathy, hypotonia and delayed psychomotor development. Affected children may show an exaggerated startle response to noise. There is progressive neurological deterioration with eventual vegetative state and death at about 5 years of age. It is due to a deficiency of hexoaminidase A. The mutation is in a gene coding for a subunit of the enzyme b-hexoaminidase on chromosome 15.
Tay-Sachs Association of South Africa
c/o SAIDA
P.O Box 1038
Johannesburg
2000
Tel: (011) 489-9213
Tay-Sachs and Allied Diseases: Eastern Cape
Mrs Sylvia Gluckman
P.O Box 146
St Francis Bay
6312
Tel: (0423) 940562
Tay-Sachs Diseases Association: Kwazulu/Natal
Jean Kluk
Tel: (031) 837181
The International Birth Defects Information Systems (I.B.I.S) The International Birth Defects Information Systems (I.B.I.S) is a multi-lingual website dedicated to promote better care, wellbeing and prevention of malformation and developmental disorders through information sharing.
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Medical Genetic and Counselling Services
To find out more about genetic counselling, click here. To find out more about genetic counselling clinics, please contact Mrs Zain Jakoet on the following.
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The Department of Human Genetics, University of the Witwatersrand The department of Human Genetics at the University of the Witwatersrand has published information on the commoner genetic disorders in South Africa. Please click here for more information. |
The South African Society for Human Genetics The Southern African Society for Human Genetics (SASHG) is a non-profit organization for health care professionals involved and interested in Human or Medical Genetics. Please click here for more information. |
