Krabbe Disease Case Study
Enzymes are natural catalysts - substances that speed up a rate of reaction without being used up. They are also proteins that are molded into various shapes that allow substrate molecules to fit inside them. The region where the substrate molecules insert themselves is called the active site. Without enzymes, biological reactions would take excessive time to take place to keep you alive. They are also significant as they aid cells to connect with one another allowing cells to maintain growth, life and death.
For example, Enzyme Amylase breaks down starch/carbohydrates digests it into glucose which merges in to our bloodstream and the remaining food is absorbed in the stomach and intestine.
However, other enzymes that construct DNA use small
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Knowing the prognosis helps determine whether certain treatments are worth being attempted and/or carried out. It also allows the patient to plan the rest of their lives and gives them the information they desire about their condition. The infant form of Krabbe disease is typically deadly before the age of two. They often die from respiratory failure or by complications of immobility and decreased muscle tone. Infants who accept the Cord Blood transfusion before the appearance of symptoms live longer lives.
Those with late-onset Krabbe disease, usually live between 2 and 7 years after displaying symptoms. The same symptoms and rate of the nervous system’s break-down depends from person to person, even including individuals in the same family who have the same genetic mutations.
• Krabbe disease affects approximately 1 in 100,000 people in the United States
• The risk for a child would be as follows if each parent has one mutated copy of the gene:
⇒ 25 % chance getting two mutated duplicates would result in the disease
⇒ 50 % chance of receiving only one mutated copy would end in the child being a carrier of the mutation but would not result in obtaining the disease itself
⇒ 25% chance of inheriting two ordinary copies of the gene
• There has also been a usually high incidence of 6 cases
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It is caused by a genetic mutation (an enduring alteration in the DNA sequence that makes up a certain gene). The mutation affects the communication by the gene that sends messages to the cells in your body.
The gene for Krabbe disease can be located on chromosome 14. A child needs to obtain an abnormal gene from both parents to inherit the disease. This gene results in a shortage galactosylceramidase (GALC). As this enzyme’s role is to produce myelin and maintain it whilst also breaking down the production of Psychosine, those affected by the disease don’t have enough GALC to protect the nerves and allow galactolipids to collect up in the brain.
The doctor will conduct a physical examination to search for symptoms. They will take a sample of blood or skin tissue biopsy, and direct it to a laboratory for investigation. The laboratory is able to test for GALC enzyme activity in the sample. If the GALC activity levels are very low, the child might have Krabbe disease. These tests can also be done to give a diagnosis:
• imaging scans (MRI) of the brain to lookout for