What is the treatment for Inborn errors of metabolism?

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My cousin has inborn errors of metabolism.He is 27 now.All the treatments have given reaction.
Is gene therapy useful?
Read www.cancertutor.com  (+ info)

Does every newborn have to do tests for the inborn errors of metabolism?

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I just received a letter from the inborn errors of metabolism for my son and they want certain tests done. i called the doctor that saw my son in the hospital but he didn't help me much when it came to explaining this to me. my 3 week old wont see his doctor until the 12th but has anyone else had to get tests done for their child and can someone explain what this means because im freaking out right now. thanks.
Check the links below for more information on inborn errors or metabolism. Some tests that are perfomed on infants are required by law, so it could be the doctor fulfilling what is required by law.

If it were me in your shoes, I would be relieved that the hospital and/or physicians are testing your child - it will save you a lot of heartache later on IF (if being a very big word) anything is wrong. Getting a problem diagnosed early will help with proper treatment and it will save your little one a lot of suffering, too IF (again that big word) they do find something.

Please be very calm through the whole process and consider it nothing out of the ordinary - as minor as vaccinations or a simple well baby check up.

Get with other relatives who have babies the same age or older and talk to them - it will help you through this. If you don't have anyone close by, ask about a new mother's support group in your area - talking things through with others in your same situation will really help you. New moms have a lot of concerns that a lot of times turn out to be not such a big deal and something that is very common - my wife went through this, so I understand your concerns.  (+ info)

Is Shwachman-Diamond Syndrome concidered an inborn error of metabolism?

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My son has Shwachman-Diamond syndrome. His does not make ANY pancreatic enzymes needed to break down food. Our insurance company is telling us that his syndrome is not concidered an inborn error of metabolism, but some doctors are telling us that it is. I would really like any feedback on this matter.
Well.... Shwachman-Diamond Syndrome is a rare genetic disorder . It affects many organs in the body . Not only the pancreas also bone marrow problems , skeletal abnormalities and short stature . Inborn error of metabolism comprise a large class of genetic diseases involving disorders of metabolism .The majority are due to defects of single genes . Inborn errors of metabolism are now referred to as congenital metabolic diseases or inherited metabolic diseases . Hope this information helps .  (+ info)

Is down syndrome an inborn error of metabolism?

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Please only answer this if you really understand the quetion, no offense.
It is an extra copy of a chromosome, down syndrome points to which chromosome has the problem. There are other forms that affects different chromosomes. They are all considered a trisomy since there are three copies instead of the usual 2. "Trisomy" is typically followed by a number, which is the number of the affected chromosome.

The genetic code is decided by the taking half of the maternal and half the paternal gene code. If there is a problem, it is replicated in the division of cell process that happens in the embryonic stage of development. Many of the other trisomies are not compatible with life. They can live in the womb but usually pass away soon after birth. There can be a partial affect (mosaic) or it can affect all cells. The extra chromosome interferes with the normal development of the cells and systems.  (+ info)

The concept of " inborn error of metabolism " was proposed by whom?

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  (+ info)

I made a big error of judgement & took a steroid tab which stopped testostorone production, wen wil it start?

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i feel low and can get any testostorone supplements, will i be ok, with no testostorone? How long will it be usually to get it back?
How do you know this ONE tablet stopped your testosterone production?  (+ info)

What must a fast metabolism body do to gain weight fast?

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I'm 5'8". When I started to weight lift I weigh 125lbs. After 6 months I gained only 14 lbs, because of my busy schedule I was not able to go the gym for a week and my weight went down, from 139lbs to 133 lbs.In just a week!... I don't want to use steroids or kreatins, only whey proteins. I eat 5 times a day, 3 of those were heavy meals. ( I eat like a pig... but I could not improve my weight). My target is 150-160 lbs. Guys I need your help, hope you could help me with this.
When to Eat and How Often
This might sound strange, but you have to eat more often to lose fat and gain muscle. During my transition period, I never ate less than 6 meals a day.
•Try to eat every 2 to 3 hours.
•Do not eat complex carbohydrates after 6:00 p.m. or four to five hours before going to bed.
•Try to eat one gram of protein per pound of lean body mass on lifting days and .8 grams of protein per pound of lean body mass on non-lifting days.
•Never eat more than 70 grams of protein in one meal.
Carbohydrates
When I think of carbohydrates, I think of energy. Carbohydrates supply our bodies with the energy it needs to make it through a workout. Without an adequate supply of carbohydrates, the body goes into carbohydrate deprivation. This is called a state of ketosis (meaning our body is using protein as energy). This is not a good state to be in for long because it will rob the body of muscle tissue in an effort to create energy. On the other hand, if too many carbohydrates are consumed, they convert into stored fat. The idea is to consume just enough carbohydrates to make it through our workouts with sufficient energy. I have broken down carbohydrates into these three categories:
•Simple carbs: These are sugars, or quick energy. They are absorbed very quickly into the body. Ex. Anything with sugar, also fruit
•Complex carbs: This is where you get long-term energy for the day. These are long chained carbohydrates that brake down slower, giving us energy over a prolonged period of time. Ex. Oatmeal, potatoes, pasta, rice, breads
•Fibrous carbs: These are things like vegetables. I think of them as roughage in order to stay regular. Make sure you include them in you later meals when you can't eat complex carbs. They are also a good source of vitamins. Ex. Leafy vegetables like lettuce.
Protein
Proteins are the building blocks of our muscles. Without a sufficient amount of protein in our diet, our muscles will not have the raw materials that they need to build up, or even hang on to what is already there.
Net protein utilization: Not all protein is created equal. Different foods are absorbed more than others. For example, egg white protein is absorbed at 88%. That means we get about 9 eggs to our muscles. On the other hand, chicken breast are absorbed at 68%, meaning we get about 7 breasts to our muscles. It is imported to eat a wide verity of protein foods though; no one protein source has all the amino acids we need.
•Whey protein (100%): the best source of whey protein is from protein supplements. It is also absorbed very fast by the body, so it is best to take this when your body needs amino acids quickly: like right after a workout or when you first get up in the morning.
•Egg whites (88%)
•Fish (78%)
•Chicken breast (78%)
•Soy protein: My one bit of advice would be to try and stay away from soy protein. It is not absorbed very well by the body.
Fats
We normally think of fats as being bad. The fact is certain fats are essential to building muscle and carrying out various functions of the body. There are 2 fat types we need to be concerned about:
•Saturated fats: these are the bad fats. Avoid these fats as much as possible. You will find these types of fats mostly in meats
•Unsaturated fats: these are the good fats. They are a good energy source and help us build muscle. You can find from plant oils. Peanuts are also a good source.
Water
Do not under estimate the importance of water! If you are looking to get lean, water will be your best friend. Drink as much as you can and as often as you can. Also, it is very important to drink lots of water when you're eating large amounts of protein to clean urea from the system.
Vitamins & minerals
As resistance training athletes, we have a greater need for vitamins & minerals. When we workout and bring blood to our muscles it is important that our blood is full of those essential vitamins & minerals if we want to grow.
Supplements
Supplements are just that, meaning they are used to supplement your diet, not replace it. Don't ever think of it that way.
Hierarchy of supplements:
I developed this hierarchy of supplements based on what I thought were the most important and also by price.
•1. Proper diet: Without proper diet you are just wasting money on supplements. Start here! Do not think that supplements are going to do it for you alone.
•2. Multi-vitamin & mineral: It is very important to have all your vitamins & minerals when resistance training. Most of us are lacking in some areas, make it a priority to make this your first supplement.
•3. Protein powder: It is usually very hard to get all the protein you need from real foods. Powders make it much easier. Also, these powders are absorbed fast by the body making them ideal after workouts or before and after sleep.
•4. Creatine: This is great for harder workouts. It also makes you muscles hang on to water, giving them a better environment to grow.
•5. L-glutamine: This is an important amino acid in muscle recovery
•6. Branch chained amino acid: These are great before and after workouts along with L-glutamine because it gives your muscles all the amino acids it needs to repair and grow.
•7. ZMA: This helps you release more growth hormone while you sleep, increasing your size and strength.
•8. Thermogenic: These really help in the fat loss process. They also help you hang on to more muscle while dieting due to the fact you can eat more.
•9. Meal replacement: Although very expensive, meal replacements make it much more convenient to get some of your meals in. Also, you can get in more meals than if you were to eat only real foods.
"The golden hour"
Remember "The golden hour" because it will make things so much easier for you. "The golden hour" is a window of opportunity we have to get everything we have depleted in our body back in a short amount of time. Think of your muscles as a gas tank: When you workout, you use gas for energy or in this case glucose. After a workout, our muscles are in a unique state. They are able to fill back up very quickly leaving you full for the next workout. If you wait to long, your muscles don't fill back up as easily and the carbs you eat are more likely to be stored as fat. Doing this will also let you take advantage of insulin's muscle building effects from the simple carbs you have ingested. You want to ingest 50-75 grams of simple carbs right after a workout. Also, this is when you want to take your protein shake because it will absorb quickly and supply your muscles with the amino acids that they need.
Insulin
This is a very complicated subject, but all we need to know is that insulin can help us build muscle or can make us fat depending on the timing. Insulin is released by the pancreas in response to elevated blood sugar levels. We can achieve a high blood sugar level by ingesting simple carbs. Like "the golden hour" we have a window of opportunity to take advantage of the muscle building effects of the insulin without getting fat. We have about 4 or 5 hours after we workout to take advantage of insulin. If we take in too many simple carbs out of this window, we are very likely to store fat.
Cheat day
The theory behind the cheat days is you take one day every 2 weeks to eat anything you want and actually get leaner. It might sound crazy, but it worked for me. When you eat low carbs for a time for body begins to think it is not getting all the food it needs (because your not storing any fat) and begins to slow down your metabolism. When you bombard your body with food on that one day, it tricks your body into thinking it has all it needs and speeds your metabolism back up. I can tell you from experience, every day after a cheat day I felt leaner and looked better.
Ketosis
This is when your body uses protein for energy. This happens when we have too few carbs in the body or when we over train. I went into the state of ketosis for only the last week of my 12-week transition for a couple of reasons: (1) I wanted all of my muscles to shrink down so when I carbed back up, my skin would be tighter. (2) When you go into ketosis it seems to bring the water out from under the skin. Don't go into this state to loose fat. Without carbs your body can not burn fat effectively. You will loose weight rather quickly, but only because you don't have as much glycogen in the muscle. Also, you are simply loosing water. Remember that proteins are the building blocks for muscle and that means they are fair game for energy when in the state of ketosis. I would not recommend going into this state unless you are trying to get into a super ripped state for a short amount of time, like for a bodybuilding contest.  (+ info)

What legal male steroid is ok to use without putting my health at risk?

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Does anyone know which male steroid (in pills) is ok to use, that will make me gain lean muscle (15-20 pounds) without bloating and side effects. In other words, I don't want a steroid that puts my health at risk, lose hair, etc.
Also, for the ones that you indicate, if you can list how many weeks to use it and the dosages, that would be great. As much information you can give me about it, it would be great.

Thank you so much guys.
There are no legal steroids, at least in the US, that you can use without the prescription of a doctor.  (+ info)

What are the chances of steroid injections for degenerative disc disease to cause weight gain?

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My physician assistant said it is the oral steroids that cause this problem. He said the injections to the spine region do not cause the weight gain. I have had a couple people say they did gain weight due to the injections. Has anyone else had problems with the spinal epidural of cortisone, (steroid) causing weight gain? I am doing extensive research online to my disc disease and looking at all aspects which include those that have been through this. Thanks.
Thanks you all for the answers, they are helping me more than you know.
My EX-Wife had the injections and she really gained a lot of weight.& i mean a LOT!  (+ info)

What is the treatment of steroid dependant nephrotic syndrome?

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Age of patient is 2 years 10 months, responded very quickly to steroids initially. Developed proteinuria within 2 weeks of completion of steroid therapy.
the response to steroids is good ,he will continue on it with an adjusted does to minimum effective to avoid stunting the growth ,if relapses re occur they may supplement with cytotoxic drugs like azathioprine,of course necessary supllementation ,the course of disease has relapses remissions and cure ,u never know where it stops and cant predict the prognosis ,for every case the response varies ,.and the outcome  (+ info)

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