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Tay-Sachs disease

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A deficiency of the enzyme Beta hexosaminidase A leads to Tay-Sachs disease, a rare genetic disorder that results in the progressive destruction of nerve cells in the brain and spinal cord. Symptoms typically appear in infancy and include developmental delays, loss of motor skills, and eventually, blindness and seizures.

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Q: What is caused by a deficiency of the enzyme Beta hexosaminidase A?
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What is Hexosaminidase?

Hexosaminidase is an enzyme that plays a crucial role in breaking down complex sugars in the body. Deficiencies in this enzyme can lead to conditions such as Tay-Sachs disease, a rare genetic disorder that affects the central nervous system.


Tay-Sachs disease is a human genetic abnormality that results in cells accumulating and becoming clogged with very large and complex lipids Which cellular organelle must be involved in this condition?

The lysosome must be involved in Tay-Sachs disease. Lysosomes are responsible for breaking down cellular waste, including lipids. In Tay-Sachs disease, a deficiency in the enzyme beta-hexosaminidase A leads to the accumulation of lipids in cells, particularly in the lysosomes.


What will you observe when the isolated beta amylase enzyme is subjected to biuret test?

When the isolated beta amylase enzyme is subjected to the biuret test, you will observe a color change from yellow to blue. This is because the biuret reagent reacts with the peptide bonds in the enzyme, causing a change in color.


Role of beta mercaptoethanol on enzyme activity?

Beta mercaptoethanol is a reducing agent that breaks disulfide bonds in proteins, including enzymes. This can help in maintaining the enzyme in an active conformation by preventing unwanted disulfide bond formation. Additionally, beta mercaptoethanol can also help in restoring enzyme activity that may have been lost due to oxidation or denaturation.


What are the levels of confirmation of an enzyme?

There are four levels of confirmation of an enzyme: primary structure (sequence of amino acids), secondary structure (alpha helix or beta sheet), tertiary structure (overall 3D shape), and quaternary structure (arrangement of multiple subunits). These levels of confirmation are crucial for the enzyme's function and activity.

Related questions

What is Krabbe's disease caused by?

Krabbe's disease is caused by a deficiency of the enzyme galactoside beta-galactosidase.


What is Hexosaminidase?

Hexosaminidase is an enzyme that plays a crucial role in breaking down complex sugars in the body. Deficiencies in this enzyme can lead to conditions such as Tay-Sachs disease, a rare genetic disorder that affects the central nervous system.


How is Sandhoff disease different from Tay-Sachs?

In Tay-Sachs disease, a mutation that affects the alpha subunit of the enzyme causes a deficiency in HexA. Sandhoff disease is caused by mutations that affect the beta subunit, rendering both the HexA and HexB enzymes deficient.


Tay-Sachs disease is a human genetic abnormality that results in cells accumulating and becoming clogged with very large and complex lipids Which cellular organelle must be involved in this condition?

The lysosome must be involved in Tay-Sachs disease. Lysosomes are responsible for breaking down cellular waste, including lipids. In Tay-Sachs disease, a deficiency in the enzyme beta-hexosaminidase A leads to the accumulation of lipids in cells, particularly in the lysosomes.


what enzyme in carrot?

beta carotene


What is a beta-lactamase?

A beta-lactamase is an enzyme produced by certain bacteria, which is responsible for their resistance to beta-lactam antibiotics.


What is the medical term meaning autoimmune insulin deficiency disorder caused by the destruction of pancreatic islet beta cells?

type 1 diabetestype 1 diabetesdiabetesDiabetes Mellitus Type I.


What does vitamin A deficiency occur?

Vitamin A deficiency occurs with the chronic consumption of diets that are deficient in both vitamin A and beta-carotene.


What is the product of the transcription of the ampicillin resistance gene?

Beta Lactumase enzyme


What is beta-lactamase?

Beta lactamase is an enzyme, which is produced by some bacteria. This enzyme brakes the beta lactum ring that is present in beta lactum antibiotics. You have four groups in beta-lactum antibiotics. They are penicillins, cephalosporins, monobactums and carbapenems. So you naturally have the enzymes penicillinase, cephalospoinase, monobactamase and carbapenamase. Whether they are one and the same enzyme or four different enzymes is not clear to the contributor and needs comment by expert in this field.


What will you observe when the isolated beta amylase enzyme is subjected to biuret test?

When the isolated beta amylase enzyme is subjected to the biuret test, you will observe a color change from yellow to blue. This is because the biuret reagent reacts with the peptide bonds in the enzyme, causing a change in color.


What is a role of beta lactamase inhibitor?

Some bacteria produce beta lactamase enzyme, this enzyme will break the beta lactam ring structure of certain antibiotics (penicillin, cephalexin for example) rendering them ineffective against the infection. If you add a beta lactamase inhibitor to a beta lactam antibiotic (i.e clavulanaic acid added to amoxicillin) it decreases the potential of the bacteria to inactivate the antibiotic.