FAQ - Fructose-1,6-Diphosphatase Deficiency
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why cant we give fructose-1,6--di phosphate intravenously to the patients instead of glucose?

F1,6DP contains two large, heavily charged phosphate groups. It cannot readily cross membranes, and I do not believe there is an active transport system for it.  (+ info)

Is there a dietitian in the house to help with severe omega 3 and 6 deficiency?

I have a severe omega 3 deficiency, a while back the doc gave me supplements. I took about 1000mg a day and my symptoms eczema and a whole host of neurological symptoms cleared. I stopped for a while and symptoms came back, I went back to 1000mg a day but this time there effects are zero. I don't know what to do my brain feels like mush right now.

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Anyone with an Alpha-1 Antitrypsin Deficiency child with liver problems?

My daughter was diagnosed with alpha-1 because of a fatty liver a couple years ago. She is about to turn 5 y/o. I can't find anyone else in my town with a child with it since it's usually diagnosed at age 30's or 40's because of the lung complications. BTW she also has cystic fibrosis. Anyone else with little children with Alpha-1?

I am an adult with Alpha-1. There are several really good organizations you shoud contact. One is actually for Alpha-1 kids. They are listed below.
Alpha-1 Kids - www.alpha1kids.org

Alpha-1 Foundation - www.alphaone.org

Alpha-1 Association - www.alpha1.org
The Alpha-1 Association can provide you with a genetic counselor free of charge.

There is also an online support group for liver affected Alpha's. Several on there are parents of children who have had transplants. Very knowledgable bunch of people that would be glad to answer your questions and just be there for support and friendship. They are really a nice group.
You can find them at:
Choose - Browse online archives
Scroll down and choose Alpha-1Liver
There is a box on the right hand side where you can subscribe to the list.
If you need help let me know and I can get someone to help you get signed up.
My email is [email protected]
Hope this helps. I know it can be scary.
Neva Maynor
WV Alpha-1 Support Group Leader
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What are the characterists of Alpha-1 Antitrypsin Deficiency?

I'm doing this as a school project! It would mean A LOT!

Trypsin is an enzyme that helps clean the surface of the alveolar septum. If it's uncontrolled then it will continue to erode the alveolar septum eventually causing the loss of the septum. This results in the alveoli becoming confluent or more balloon shaped as opposed to their normal grape like structure.
What stops this enzymatic activity, or at least keeps it in check is the alpha -1 antitrypsin. When this antitrypsin is missing the trypsin causes a type of emphysema called panlobular. This is different from the usual emphysema which is a result of years of chronic bronchitis. This type is called centrilobular emphysema.
The first type, the alpha-1 antitrypsin one is commonly known as type A.
The centrilobular type is type B.
There is a third type called type C which is a mix of the two.
There is a nickname for the type A emphysemics- pink puffers.
The type B are called blue bloaters.
Type C doesn't have a nickname.
So the causative mechanism is different in the two types of emphysema. The symptoms are different hence the two nicknames.
The pink puffers don't usually retain CO2 like the blue bloaters do.They are more apt to hyperventilate causing them to have rosey cheeks, hence the nickname.
Blue bloaters have a tendency to have been smokers and have a higher incidence of heart disease which results in congestive heart failure and cyanosis, hence blue bloater.
Hope this at least gets you started.  (+ info)

The #1 cause of preventable mental retardation worldwide is iodine deficiency during pregnancy (resulting in c

The #1 cause of preventable mental retardation worldwide is iodine deficiency during pregnancy (resulting in cretinism). what is the #1 cause of preventable mental retardation in the United States is intake of during pregnancy?

Dietary deficiencies are not common in USA, specially in pregnant ladies. There may be other causes related with mental retardation, but not due to any deficiencies I think. I would like to see other answers.
Good luck!  (+ info)

What exactly is an IL-6 deficiency, and how to find someone who studies it?

Interleukin 6 (IL-6) is a special type of protein, called cytokines, that are released from certain immune cells to help fight infection. IL-6 is also important in wound healing and producing a fever when someone has an infection. Deficiency of IL-6 can make the person more vulnerable to infections. IL-6 deficiency is rare. Immunologist are the experts and doctors that study this type of condition. You could ask your primary doctor or local immunologist if they know of anybody in your area that researches this. Most of the research I found was related to mice who were purposely made deficient in IL-6. Sorry I could not help you more. Good luck.  (+ info)

Is blinking or winking in a 1-year old baby a sign of vitamin deficiency?

Nope, it's natural muscle development. If it is constant, you may have a child that has a neurologic problem. If you are that concerned, go see your doctor.  (+ info)

Does anyone have or know someone with Alpha 1 Antitrypsin Deficiency?

My father was diagnosed. And now I need to have my sons and myself tested. I wanted info or stories from others.

I am interested in only seriouse replys please.

Well, lets see if i can help you out.. Im a respiratory therapist.. and lucky you, i just happen to be at work :)

A1AD is a disease that is what is commonly grouped with COPD or Emphasema.. But where most of your COPD and Emphasema patients have a long history of smoking, Alpha 1 patients may have never picked up a cigarette ever....

(Im going to try my best to put this in laymens terms for ya).. Think of your lungs as a tree.. you have the trunk of the tree (the trachea), then the main branches of the tree (your left and right main stem bronchus), somewhat smaller branches steming from those (bronchi), even smaller branches (brochioles) until you finally get to the airsacks (aveoli) at the very end of these branches (think of these as the leaves of the trees).. These aveoli is where oxygen exchange takes place.. When you take a breath in, the oxygen in the air gets to those aveoli, and is exchanged with the Carbon Dioxide in our blood (waste product of breathing).. Now, what happens - when you suffer from A1AD, which is hereditary, the serum level of alpha-1 - antitrypsin in the blood is low, which causes changes in the structure of those aveoli, which in a respiratory sense, causes a malfunction in exchanging oxygen into the blood stream.. Theres a thickening of the walls of the lungs, and when you breathe in, a good portion of the air yout ake into your lungs just kinda sits there and isnt exchanged at all... It makes a dead space in your lungs...(It also can cause sirrosis of the liver, btw).. Now, heres the good news.. If you get tested, and lets say it comes out positive for Alpha 1, it can be treated (but not cured) before ANY symptoms show up.. Its also important your children get tested because even if they do not have the disease, they could carry it and give it to their children later..

I hope this kinda helps.. :)  (+ info)

What are the causes and effects of Glucose-6-Phosphate Dehydrogenase Deficiency?

Glucose-6-phosphatase dehydrogenase (G-6-PD) deficiency is the most common disease-producing enzymopathy in humans. Inherited as an X-linked disorder, G-6-PD deficiency affects 400 million people worldwide. The disease is highly polymorphic, with more than 300 reported variants. It confers protection against malaria, which probably accounts for its high gene frequency.

The G6PD enzyme catalyzes the oxidation of glucose-6-phosphate to 6-phosphogluconate while concomitantly reducing the oxidized form of nicotinamide adenine dinucleotide phosphate (NADP+) to nicotinamide adenine dinucleotide phosphate (NADPH). NADPH, a required cofactor in many biosynthetic reactions, maintains glutathione in its reduced form.

Reduced glutathione acts as a scavenger for dangerous oxidative metabolites in the cell. With the help of the enzyme glutathione peroxidase, reduced glutathione also converts harmful hydrogen peroxide to water. Red blood cells rely heavily upon G-6-PD activity because it is the only source of NADPH that protects the cells against oxidative stresses; therefore, people deficient in G-6-PD are not prescribed oxidative drugs because their red blood cells undergo rapid hemolysis under this stress.

The five classes of G-6-PD deficiency include low, normal, or increased levels of the enzyme.

Internationally: The highest prevalence rates (with gene frequencies from 5-25%) are found in tropical Africa, the Middle East, tropical and subtropical Asia, some areas of the Mediterranean, and Papua New Guinea.
Mortality/Morbidity: The most common clinical feature is a lack of symptoms. Symptomatic patients present with neonatal jaundice and acute hemolytic anemia.

Neonatal jaundice: Jaundice usually appears by age 1-4 days, at the same time as or slightly earlier than so-called physiological jaundice and later than in-blood group alloimmunization. Kernicterus is a rare complication.
Acute hemolytic anemia: Clinical expression results from stress factors such as oxidative drugs or chemicals, infection, or ingestion of fava beans.
Race: G-6-PD deficiency affects all races. The highest prevalence is among persons of African, Asian, or Mediterranean descent. Severity varies significantly between racial groups because of different variants of the enzyme. Severe deficiency variants primarily occur in the Mediterranean population. The enzymatic variants in the African population have more activity and produce a milder form of the disease.

G-6-PD deficiency is an X-linked inherited disease that primarily affects men.
Homozygous women are found in populations in which the frequency of G-6-PD deficiency is quite high.
Heterozygous (carrier) women can develop hemolytic attacks.  (+ info)

I had G6DP Deficiency (Glucose-6 Phosphate Dehydrogenase Deficiency), please advise me what kind of medicine?

please advise me what kind of medicine I can take when I have an headache or catch a flu, catch a cold... since I can not take aspirin, acetaminophen, Vitamin C.
Thank you very much for your help.

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