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Glucose-6-Phosphate Dehydrogenase deficiency

Genetic disorder that occurs most often in males, occurs when a defected G6PD enzyme breaks down red blood cells prematurely

Brendan Martin

on 11 January 2013

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Transcript of Glucose-6-Phosphate Dehydrogenase deficiency

Genetic Disorder Glucose 6 phosphate dehydrogenase deficiency What is it? Whats really scary... Works cited links Glucose-6-phosphate dehydrogenase deficiency or g6pdd for short, is a X-linked genetic disorder more likely in males. The G6PD gene or allele provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme which is in all cell types plays a critical role in the processing of carbohydrates and protecting red blood cells What is it? (Blood) The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them http://www.aafp.org/afp/2005/1001/p1277.html In affected individuals, the defected enzyme causes the blood cells to break down prematurely. This processes is called hemolysis G6PD enzyme function Glucose-6-phosphate dehyrogenase The enzyme dehydrogenates the carbohydrate, moving hydrogen If mutations in the G6PD gene reduce the amount of glucose-6-phosphate dehydrogenase or alter its structure, this enzyme can no longer play its protective role. As a result, red cell damage can occur. Certain drugs, infections, fava beans, can all increase reactive oxygen levels causing red blood cells to be destroyed faster than the body can replace them To much science The cytogenetic location of this gene is Xq28 Why is this important? Well because, this condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. Males, who only have one X chromosome only need that one X chromosome to be mutated to have the condition.

Again, Males are more likely

Females on the other hand have two X chromosomes would need two mutated X chromosomes to be passed down for it to take effect. This gene contains genetic information for the G6PD enzyme to be produced. More than 140 mutations that cause this condition have been identified in the gene. Almost all these mutations lead to changes in amino acids that build the G6PD enzyme Red Blood cell Function So basically... When your body does not have enough of the G6PD enzyme the processes of altering glucose into another essential carbohydrate (such as ATP) for energy cannot occur as often or quickly Many with this disorder suffer from chronic exhaustion, someone with G6PD are usually unable to preform in activities that involved quick increases in heart rate. This can propose many problems in a child development... *Physically
Socially Development Physically Someone with G6PD will be limited to many kinds of foods and certain triggers that may cause problems in the body Certain types of materials can cause outbreaks such as mothballs, antibiotics, antipyretics, and naphthalene products Emotional G6PD deficiency can cause many emotion problems, such as: *Knowing it will be passed on to your child
*Inability to preform in a lot of sports
*Watching very closely on the foods you eat
*Chronic exhaustion
*Accepting the genetic disorder An estimated 400 million people worldwide have G6PD deficiency. This condition occurs most frequently in certain parts of Africa, Asia, and the Mediterranean. It affects about 1 in 10 African-American males in the US What are the symptoms? When G6PD brings anemia some symptoms include:
Yellowing of the skin Yellowing of eyes
Dark urine
Shortness of breath Rapid heart rate G6PD deficiency is tested by taking a blood sample of the umbilical cord Without this enzyme or having few of them is like building a puzzle with a missing piece The gene is the blueprint for the G6PD enzyme! A day in the life Researchers believe that carriers may be partially protected against malaria. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it difficult for a parasite to invade Dean Holder - G6PD Deficiency Trigger- Lemonade Couldn't stay awake How keeping it a secret effected Dean One of many... Is there a cure? "No, there is no known cure nor do you grow out of it. It is a life long condition. The only thing you can do is avoid substances which cause oxidative stress and that use G6PD. Carbohydrates require G6PD for the body to change them into energy for example. Legumes (especially the Fava Bean) contain the proteins vicine, convicine and isouramil which cause hemolysis" -G6pddefiency.org This pathway is almost like dominoes Treatment "The following medicines can sometimes cause problems for people with G6PD deficiency and should be avoided if possible

1) For infections avoid:

Nalidixic acid, Nitrofurantoin, Sulphonamides and Dapsone

3) Avoid close contact with:

Moth balls (Naphthaline)

4) Avoid eating:

Fava (Broad) beans and Chinese herbal medicines [and foods that cause hemolysis]

In most cases, cases of G6PD deficiency go undiagnosed until a child develops symptoms. If doctors suspect G6PD deficiency, blood tests usually are done to confirm the diagnosis and to rule out other possible causes of the anemia. If you feel that your child may be at risk due to your family history or your ethnic background, talk to your doctor about performing a screening with blood tests to check for G6PD deficiency is advisable.

With the right precautions, a child with G6PD deficiency can lead a healthy and active life" -AGIHlab.com/G6PD Blue- Discussed in class

Red- Terms you will need to know

Green-Interesting facts - Quiz question on this slide 1. What is the name of this genetic disorder?
a) Glucose-6-phosphorus b) Glucose-6-Potassium c) Glucose-6-phosphate deficiency d) Glycogen-6-phosphate disorder http://www.g6pd.org/ http://en.wikipedia.org/wiki/Glucose-6-phosphate_dehydrogenase_deficiency 2. G6PDD effects red blood cells
True False 3. The Deficiency is...
a) the gene b) The red blood cells c) The enzyme or protein d) The neuromuscular system 4. This disorder effects the PIES of an individual?
True False 5. The gene contains information that helps build...
a) Red blood cells b) Phosphate c) Glucose d) G6PD enzyme 6. Moth balls are triggers for some people with this disorder
True False Quiz
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