Pyruvate dehydrogenase complex deficiency?

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My nephew was diagnosed with Pyruvate dehydrogenase complex deficiency 2 years ago. I have never been able to understand it. Can anyone give me some information on it? Or point me in the right direction for good information please?
Pyruvate dehydrogenase complex deficiency (PDCD) is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism. The citric acid cycle is a major biochemical process that derives energy from carbohydrates. Malfunction of this cycle deprives the body of energy.

PDCD is a rare disorder. Several hundred cases of PDCD have been reported. Most mutations are sporadic, and the recurrence rate is very low. The true occurrence of this disorder is unknown because mild mutations of the E1 alpha enzyme subunit gene on the X chromosome may be asymptomatic, especially in females.

Individuals with neonatal- and infantile-onset types of PDCD usually die during the first years of life. Later childhood onset of the disease is usually, but not always, associated with survival into adulthood.

Some therapies may extend the lives of individuals who are severely affected with PDCD; however, the progressive nature of the neurological deterioration results in significant morbidity.

-Evaluation by an expert in metabolic and genetic disease is necessary to confirm the diagnosis, guide the appropriate treatment, and determine the prognosis.
-Genetic counseling for the parents of the individual with PDCD is important in order to estimate the recurrence risk for future pregnancies.
-Progressive renal failure is common in PDCD. A nephrologist should be consulted if signs of renal failure are evident.
-Anesthesia can be complicated by PDCD. An anesthesiologist should be consulted prior to procedures that require anesthesia.  (+ info)

can you die from pyruvate dehydrogenase complex?

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my mom told me i might have this, and its making me think if i have it or not. i just dont wannt die from it. anyone has any answers what it does to ya help me out and tell me cause i dont know anything about doctor terms

well thanks for taking the time reading this
Nick
How old are you now? Are you experiencing any symptoms?
Total deficiency of pyr dehydr doesn't happen and it is possible that you have only a very mild deficiency.  (+ info)

WHAT IS PYRUVATE DEHYDROGENASE DEFICIENCY?

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  (+ info)

is there a difference between thyroid disease and thyroid deficiency?

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a friend of mine has a thyroid deficiency and she got an OTC allergy medication but it says to consult her doctor before taking the medication if they have .... and one of them was thyroid disease.
Thyroid disease is a basket term for hypothyroidism, thyroiditis, goiters, hyperthyroidism, thyroid cancer, etc. Your friend is hypothyroid, she needs to consult her doctor before taking the medication because it can cause fast heart rate.  (+ info)

what is a disease that can be caused by a vitamin deficiency?

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i need to write a 1 page paper on a disease caused by a vitamin deficiency but i don't know
I agree, Scurvy.
It is caused by Vitamin C deficiency  (+ info)

My Baby is shacking one of his leg when he is awake, Is it sign of some neural disease or vitamin deficiency?

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Hi I ve twins.they r 3 month older.My son shakes his one leg ,it looks scary.I wanted to know whether its because of some deficiency in body,or some nural problem.I asked doctor but he says its very common in infant but it seems may b some problem.Can anybody share their experience or knowledge regarding the leg shaking of infants?
it's normal they don't have control over their muscles or motorskills that well so shaking or spasms is not all that uncommon for a baby that small. Both my daughter and son have done it. As they grow and their muscles become more developed then it will stop, if it doesn't seek a medical professional.  (+ info)

What is a disease that causes the body to be covered in bruises, that is not brought on by iron-deficiency?

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Assuming there is one, I would like to know the name of any diseases that cause the body to develop bruises on the skin. Of course I don't want to know about iron-deficient blood or anything of that sort.
Aids can cause purplish bumps that seem to be bruises that won't go away. Also, lack of vitamin C in the body can allow easy bruising. 500 mg of C 3 times daily helps to build collagen. Should get doctor's sanction. Also, if on meds or blood thinners, that may also allow easy bruising.  (+ info)

Is there any kind of disease or deficiency that causes swollen red numb fingers, and swollen feet?

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Besides pregnancy, since that isn't even possible. It happens every few days where my fingers swell up and feel all numb, and the bottom of my feet feel like they have lumps in them. Any ideas on what this could be?
While the symptom of numbness in the feet and fingers can vary among individuals, the best way to get relief and prevent the situation from getting worse is to report any numbness or tingling to your doctor.

I do not thing it is due to any deficiency or some disease. May be you are very fair and hence your fingers and feet get red when the blood circulation is disrupted due to the numbness and swelling. You need not worry about this point.

Even though numbness in the feet is usually caused by problems with nerve function, or an injury to or pressure on a nerve, a bone fracture from osteoporosis could be the cause. By the way if you are pregnant these difficulties are common. Otherwise I will credit the swelling of the feet and the subsequnt numbness to Water Retention. A build up of fluid causes swelling which in turn causes tingling or a loss of sensation in the feet. Diabetes can cause a number of serious foot problems as well. Although a psychological disorder, some of the physical complications associated with anorexia nervosa include swollen hands and feet, sensitivity to cold, osteoporosis and low blood pressure, all of which can cause numbness in the extremities.

With so many causes it is difficult to say for which one or two you are suffering this illness. Only a doctor on the scene will be able to tell you clearly and it can be cured without much treatments and just by some simple medication. -  (+ info)

How do the treatment and control of inherited disease differ from the treatment and control of a deficiency D?

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D is disease it can't fit
Inheritance is the transmission of traits, characteristics and disorders from parents to their offspring through the genes. An example of this would be blood disease/disorder Hemophilia affecting males. There is problem with blood clotting leading to persistent bleeding after an injury or even spontaneously. Since we are not yet able to 'fix' the genetic problem in this and other diseases, there is no cure. But good control is possible by giving these people the necessary blood factor.

A good example of a deficiency disease is scurvy which was a big problem for the early days sailors. Eventually it was found to be due to lack of vitamin C and could be cured by eating fresh fruits. In other deficiency diseases intake of the particular substance may be normal but the absorption and or utilization of the substance may be defective probably due a genetic problem. In fact hemophilia is due to lack of synthesis of the blood protein called factor VIII which is vital in the blood clotting mechanism.

Pellegrini Kitara-Okot
http:www.malariapreventiontips.com  (+ info)

What is a skin disease that is caused by Vitamin B deficiency?

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It has to be 8 letters long and the 5th letter has to be an A.
_ _ _ _ A _ _ _
pellagra. it is caused by a niacin (vitamin B3) deficiency  (+ info)

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