Hexosaminidase sentence example

hexosaminidase
  • Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
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  • The genetic defect in Tay-Sachs disease results in the lack of an enzyme called hexosaminidase A.
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  • Juvenile hexosaminidase A deficiency: Symptoms appear between ages two and five; the disease progresses more slowly, with death by about 15 years.
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  • Chronic hexosaminidase A deficiency: Symptoms may begin around age five or may not occur until between 20 and 30 years of age.
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  • Tests to determine the presence and quantity of hexosaminidase A can be performed on the blood, specially treated skin cells, or white blood cells.
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  • A carrier has about half the normal level of hexosaminidase A present, while an individual with the disease has no hexosaminidase A at all.
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  • When the levels of hexosaminidase A are half the normal level, a person is a carrier of the defective gene.
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  • Blood tests of carriers reveal reduction of hexosaminidase A.
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