You work in a lab that does tests on blood samples for patients who are thinking

Question

You work in a lab that does tests on blood samples for patients who are thinking of having children and want some genetic counseling. One of the samples exhibits a deficiency in the enzyme beta-N-hexosaminidase A, Such that the patients sales exhibit only half the normal level of the enzyme. What would be your assesment of the patient’s situation? You work in a lab that does tests on blood samples for patients who are thinking of having children and want some genetic counseling. One of the samples exhibits a deficiency in the enzyme beta-N-hexosaminidase A, Such that the patients sales exhibit only half the normal level of the enzyme. What would be your assesment of the patient’s situation?

Explanation / Answer

beta-N-hexosaminidase deficiency is Tay-Sachs disease, also known as the acute infantile variant. Tay-Sachs disease is characterized by progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response beginning between ages three and six months with progressive evidence of neurodegeneration including: seizures, blindness, spasticity, eventual total incapacitation, and death, usually before age four years. The juvenile , chronic, and adult-onset variants of hexosaminidase A deficiency have later onsets, slower progression, and more variable neurologic findings, including: progressive dystonia, spinocerebellar degeneration, motor neuron disease, and, in some individuals with adult-onset disease, a bipolar form of psychosis.

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