SANDHOFF DISEASE IN THE TURKISH POPULATION

Eighteen cases affected by Sandhoff disease were investigated by an en zymatic study of serum and leukocytes during the period 1988-1996, the clinical expression and enzymatic study were reported and discussed, An indirect minimum disease incidence was calculated in the Turkish po pulation. Hexosaminidase activity in serum and leukocytes was severely deficient when measured by synthetic substrate 4-MU-N-acetylglucosami nide using the thermolabile fractionation procedure, Fractionation of hexosaminidase revealed different levels of isoenzymes A and B. Clinic ally, organomegaly was not found in 11 out of 18 infantile Sandhoff di sease patients, while the remaining seven had mild organomegaly. Organ omegaly was not found in patients with relatively high % hexosaminidas e B activities. These results suggested that patients with different p ercent heat-stable enzyme activity may have a different type of mutati on which is related to the underlying molecular heterogeneity in the T urkish population where 21% of marriages are found to be consanguineou s. (C) 1997 Elsevier Science B.V.