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)

What is the difference between fructose and sucrose?

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I know that fructose is better for health because it is natural, and because it is the type of sugar we find in fruits. On the other hand, we should not consume too many fruits if we don't want to put on weight because of all the sugar that there is in them. Then how is a chocolate bar with fructose better for health than a chocolate bar with sucrose? Is the one with fructose better for health but still likely to make you gain weight?
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How does high fructose corn syrup compare to regular corn syrup?

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On my promax bar, it says in bold letters -'No High Fructose Corn Syrup!', but on the back it lists corn syrup as an ingredient.

What I gathered from skimming over the web is that hfcs is sweeter, and has a higher percentage of fructose which is bad for you. Then again, a lot of regular corn syrup can have more fructose and make the product sweeter than a small amount of HFCS.

So whats the real difference?
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What is the percentage of fructose in 100mls of concentrated lemon juice?

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I am doing some important research for a sports drink company and am struggling to find out what is the percentage of fructose in 100 millilitres of concentrated lemon juice? If someone can answer this question and tell me what is the source of their information I would be grateful. Thanks.
This what i got. EFH

]Frozen confections normally contain relatively high amounts of sugar. However, consumers are increasingly concerned about health issues such as obesity and diabetes. Thus there is a demand for frozen confections that contain less sugar. However, simply removing sugar from frozen confections results in products that are not acceptable to consumers because they are not sufficiently sweet. They are also very hard because lowering the amount of sugar results in less freezing point depression, and hence a higher ice content. One approach has been to replace some of the sugars present in frozen confections with fructo-oligosaccharides such as inulin. Fructo-oligosaccharides are not digested in the human small intestine and thus have a lower caloric value, whilst also contributing dietary fibre. For example, EP 532 775 discloses foods, including ice creams, having a reduced sugar content wherein part of the sugar is replaced with insulin.

A frozen confection is provided, having a pH of from 4 to 6 and comprising (by weight of the confection) 2-12% of fructo-oligosaccharides and 0.6-4% of a buffer. A process for making the frozen confection is also provided.
Claims:
1. A frozen confection having a pH of from 4 to 6, comprising (by weight of the confection) 2-12% of fructo-oligosaccharides and 0.6-4% of a buffer.

2. A frozen confection according to claim 1 wherein the buffer comprises a weak acid selected from citric acid, malic acid, lactic acid, fumaric acid, ascorbic acid, tartaric acid, phosphoric acid or succinic acid and mixtures thereof.

3. A frozen confection according to claim 2 wherein the buffer comprises the sodium or potassium salt of the weak acid.

4. A frozen confection according to claim 3 wherein the buffer comprises citric acid and sodium citrate.

5. A frozen confection according to claim 1 wherein the pH is from 4.2 to 5.0.

6. A frozen confection according to claim 1 wherein the buffer is present in an amount of from 0.75 to 3 wt %.

7. A frozen confection according to claim 1 comprising 3-10 wt % fructo-oligosaccharides.

8. A frozen confection according to claim 1 wherein the fructo-oligosaccharide is selected from inulin, oligofructose, kestose and mixtures thereof.

9. A frozen confection according to claim 1 which is a water ice, a fruit ice, a sorbet or a frozen yoghurt.

10. A frozen confection according to claim 1 comprising less than 1 wt % protein.

11. A process for manufacturing a frozen confection according to claim 1, the process comprising the steps of:(a) preparing a mix having a pH of from 4 to 6 and comprising 2-12 wt % fructo-oligosaccharides and 0.6-4 wt % of a buffer;(b) pasteurising and optionally homogenising the mix; then(c) freezing and optionally aerating the mix to produce the frozen confection.  (+ info)

How does cornstarch turn into high fructose corn syrup?

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If I heat cornstarch and water (or milk) in a small saucepan and stir, will the sugar content go up? Does this turn it into high fructose corn syrup?
a viscous, sweet syrup produced by breaking down (hydrolyzing) cornstarch, either by heating it with a dilute acid or by combining it with enzymes. (Cornstarch is a product of corn [maize].) Light corn syrup has been clarified and decolorized  (+ info)

What is powdered fructose and what can be substituted for it?

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I have a muffin reccipe calling for powdered fructose. What is this excactly and what can I substitute it for? I couldnt find anything at the store that was called this. Is this just some sort of sugar? Thanks
It is just dried fruit sugar. It was briefly popular to use it as some sort of a 'natural' substitute for cane sugar back in the 70's and 80's. You can substitute any white sugar you have on hand for the fructose.  (+ info)

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