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Identify the following birth anomaly as either congenital (C) or genetic (G) Tay-Sachs Disease

User Nachum
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Final answer:

Tay-Sachs Disease is a genetic disorder inherited in an autosomal recessive manner, requiring a child to inherit defective genes from both carrier parents. The disease is characterized by a harmful buildup of sphingolipids in the brain leading to neuron destruction and severe neurological symptoms.

Step-by-step explanation:

Tay-Sachs Disease is a genetic disorder that is classified as autosomal recessive. This means that a child must inherit one defective gene from each parent to be affected. Carriers of the Tay-Sachs gene, who have only one copy of the defective gene, do not show symptoms of the disease. For a child to become affected with Tay-Sachs, both parents must be carriers of the recessive gene. The inheritance pattern is such that there is a 25% chance that a child will inherit the disorder when both parents are carriers.

In Tay-Sachs disease, a mutation causes an enzyme to be inactive or to be less effective at breaking down certain fats in the brain, leading to a harmful buildup of sphingolipids, which causes brain damage. This buildup results in the destruction of neurons and the severe symptoms associated with the disease, which include loss of muscle function, seizures, and cognitive impairment.

User Vernel
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