Adult‐onset GM2 gangliosidosis diagnosed in a fetus

R. Navon, U. Sandbank, A. Frisch, D. Baram, A. Adam

نتاج البحث: نشر في مجلةمقالةمراجعة النظراء


Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of β hexosaminidase A (HEX A), characteristic of carriers of Tay‐Sachs disease (TSD), while the father suffers from an adult‐onset GM2 ganglio‐sidosis (AOG) with severe HEX A deficiency. Activity of HEX A in the cultured fetal cells was very low when measured by the heat‐inactivation method, thus showing the typical biochemical phenotype of TSD fetuses. However, upon separation of HEX isozymes by ion exchange chromatography, residual HEX A (17 per cent of total HEX) was demonstrated. Also in contrast to TSD fetuses, this fetus' fibroblasts were able to synthesize the precursor of a chains of HEX, and ultrastructural examination of its brain revealed few atypical lamellar bodies, unlike those found in TSD fetuses of the same gestational age. It is therefore concluded that the fetus was not affected with TSD, but rather with AOG.

اللغة الأصليةالإنجليزيّة
الصفحات (من إلى)169-176
عدد الصفحات8
دوريةPrenatal Diagnosis
مستوى الصوت6
رقم الإصدار3
المعرِّفات الرقمية للأشياء
حالة النشرنُشِر - 1986


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