FAQ - Ornithine Carbamoyltransferase Deficiency Disease
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Mental retardation in those w/ ornithine transcarbamylase deficiency?

I have ornithine transcarbamylase deficiency (OTC), the most common of the urea cycle disorders, and while I, personally, have no mental disabilities, I was wondering what perfect of people do. How does that usually manifest itself? Is it generally severe, or more like a high-functioning aspergers?

Any and all information would be welcome. Details would be of interest to me.

This is a pretty specialised area, so you probably won't get the info you need here. I'm not sure what percentage of people with OTC have mental disability, but the effects of the disorder depend on how high the ammonia level got and for how long (usually it's at it highest right before diagnosis, so I presume you must have been only midly affected or maybe you were diagnosed very quickly). Also because of the genetics (it's an X-linked disorder), it's usually worse in males and can be very mild in females.

There's lots of information on this page: http://emedicine.medscape.com/article/950672-overview - note at the top right it has links to further pages on treatment, follow-up, etc. It says:

"Most affected male infants with neonatal presentation have not escaped the initial episode with normal mentation. Nonetheless, survival for many years can be achieved with very careful monitoring; use of oral citrulline, benzoate, and phenylacetate; and scrupulous dietary attention.

"Prognosis for older males with initial onset remains unclear because so many remain undiagnosed until very late in the clinical course.

"Most heterozygous females appear to be relatively healthy, except for a propensity to develop severe headaches with high protein intake. Women and children who are mildly affected can have an excellent prognosis with proper care."

I can't find anything about the way the mental disabilities would specifically be manifested.  (+ info)

is there a difference between thyroid disease and thyroid deficiency?

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?

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?

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?

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?

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?

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?

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)

What is the deficiency disease for folic acid?

another name is folacin.
does any body know the other name for it?

Folic acid (folinic acid, folacin, pteroylglutamic acid) was first isolated from spinach leaves (its name derives from the Latin folium meaning "leaf") in 1964 and early on was found to be essential in the prevention of anemia in animals. Later it was discovered that ensuring that mothers had adequate folic acid levels could prevent neural tube defects in human babies.  (+ info)

Vitamin B 12 deficiency and post Lyme disease?

I went on antibiotics and now I'm off of them. I have still been having headaches and fatigue, sometimes its hard to concentrate. I did a blood test and there is no sign of active Lyme in my system. So i did not know what was wrong. I been taking vitamin b 12 supplement and noticed these symptoms are getting better.

Is there a link between B 12 deficiency and the Lyme bacteria?

Several common features of modern life accelerate the decline of vitamin B12 in serum through life, including the following:

* Microwave ovens In one test, microwaving milk degenerated 30% to 40% of milk's vitamin B12 in six minutes; with conventional heating, 25 minutes of boiling was needed to depress B12 that much. (67) More importantly, the heat of microwaving destroys all the enzymes in ingested food, which are required to enable absorption and utilization of food. And so by eating microwaved food, both at home and in restaurant and take-out meals, tens of millions of Americans are making themselves increasingly vulnerable to AD, as well as to cancer.

* The Western diet B12 ingestion and stores tend to be insufficient among millions who have for decades eaten RDA-fortified, yet vitamin- and mineral-depleted, processed Western diets, which are also big sources of disease-creating free radicals. (69) Too low levels of omega-3 essential fatty acids in Western diets, harmful in many ways, must also contribute to insufficient B12 levels. (70) Omega-3 supplementation may yield its benefits largely through augmenting vitamin B12. Too-low levels of acetyl-carnitine and folic acid also appear to worsen risk of the condition. (71,72) It's worth noting that in an Alzheimer's disease mouse model, a diet rich in omega-3 essential fatty acids, specifically DHA (docosahexaenoic acid), has been shown to potentially slow or even prevent Alzheimer's disease. (73) At modest cost, we can easily ingest DHA in fish oil or [Carlson's] cod liver oil. Also worth considering is the role of trans-fatty acids (TFA) found in products labeled "zero trans-fats" with EPA approval. In a study of over 800 senior citizens, those with high TFA were twice as likely to suffer symptoms of Alzheimer's disease compared to those with the lowest TFA intake ([email protected]; accessed 2/17/06).

*Hypochlorhydria.i.e. insufficient hydrochloric acid Most commonly, B12 insufficiency results directly from hypochlorhydria--insufficient hydrochloric acid (HCl) in the stomach--or by achlorhydria--no HCI at all. The acid should be concentrated enough to dissolve a nail in an hour. (77) Hypochlorhydria is likely caused by zinc/vitamin B6 deficiency (78) and a shortage of ionized calcium. (79,80) (Both deficiencies are typically present in older people.) Lack of enough pepsin or HCl in the stomach to generate the bond between B12 and its carrier protein typically shows with atrophic gastritis. (81,82) Both are also risk factors for gastric cancer. (83) Incomplete digestion of foods due to hypochlorhydria and low pepsin production also can be involved in subsequent allergic response in asthma.  (+ info)

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