What is the treatment for Inborn errors of metabolism?
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?
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
What other renal pathways for sodium reabsorption which are independent of K+ transport.?
What other renal pathways for sodium reabsorption which are independent of K+ transport.?
www.google.com has a great deal of information that you could use to find your answers , while yahoo answer is more likely to be better for people's opinions.. thanks. (+ info
What is renal tubular acidosis?
where can i pictures of renal tubular acidosis?
Renal Tubular Acidosis?
My 10 month old is a "failure to thrive", but now it looks like they might have an answer. Her bicarbonate keeps coming back low. The specialist suspects it's renal tubular acidosis. Anyone out there have any experience with this? I have searched everything, but am having trouble grasping exactly what it is and what needs to be done. She mentioned med that is like adding baking soda to her food.
Our blood needs to be kept within certain limits of acidity, too much acid and there's a problem and too little there is a problem.
The acid balance in the blood is done, on the whole, by the lungs and the kidneys. The renal tubular acidosis you say is an issue with the kidneys. It's important to remember though this is not an actual disease as such, but a sign of some other underlying problem they will try to find.
But for now it's best to simply treat the condition.That's where the baking soda could come in. The kidney's keep the blood acid levels in range with a series of chemical reactions, several of which use sodium bicarbonate (the chemical name for baking soda). In the simplest reaction the bicarbonate reacts with the acid to make carbon dioxide and water (which we remove in the pee).
So increasing your kids intake of bicarbonate might well help the failure to thrive by keeping the acid levels in normal ranges. Hope that helped! (+ info
Renal tubular acidosis?
Hi, has anyone has, or know about someone with renal tubular acidosis. In my husbands`s family there is a history about this condition. Apperently the sign of it is that the child is not growing properly. My 2 and a half year old is growing fine, but she is still quite small for her age. Very bony, skinny little girl, everyone says she is petite(me and my husband are on the smaller side too). Over the Holidays I just saw my husband 2 little cousins, and they both has been diagnosed with Renal tubular acidosis and Metabolic Acidosis as well. They suggested to have my daughter checked out, since there is another family memeber who has this condition. Since they are from South America, I can`t communicate with these family too well to ask questions about it. They got me scared a lot. Do you have any suggestions?
Yeah, take her to a doctor, explain the history and have her tested! Esp since it runs in your family, you need to know so treatment can start if the test comes up positive, and if not, then you can be can have peace of mind to know that she doesn't have it. Take your head out of the sand, take your daughter to a doctors office and have her tested. (+ info
What is Renal Tubular Acidosis Type 1?
Ok I am a 32 yr old female, 2 months ago I found out I have Medulary Sponge Kidney (MSK) & Interstitial Cystitis (IC). So the dr had me do a 24 hr urine catch, well today she calls and informs me that I also have Renal Tubular Acidosis (RTA) Type 1. Now I have no idea what this is if anyone can help I would really appreciate it.. Also with having the MSK & IC will it effect the RTA???? HELP PLEASE!!!!
I don't know. I'm sorry. Here's a great resource for the MSK. It's been causing me a lot of pain lately. Hope you're ok. http://groups.msn.com/medullaryspongekidney
Good luck. (+ info
what is renal tubular or renal tubule of the kidneys?
it may refer to nephron itself or to a part of nephron. if you mean renal tubular acidosis ,tubule is refer to a part of nephron named tubule. do you know about nephron and its structure?
The basic structural and functional unit of the kidney is the nephron. Each kidney has about 1 million nephrons, all packed into an area of the kidney called the cortex. The nephron's primary function is to filter blood, but as you can see from the diagram, this is not a simple process. The nephron has three major parts: the glomerulus, the Bowman's Capsule, and the tubule (which is further divided into the promimal and distal tubule and the Loop of Henle).
Blood enters the kidney from the renal artery and moves into the glomerulus, where filtration occurs. Filtration is the process by which water and dissolved particles are pulled out of the blood. The resulting liquid, called filtrate contains water and many of the toxic substances that might have accumulated in the blood (like ammonia). The glomerulus is enclosed by the Bowman's capsule, small molecules and water can pass through this area, but larger molecules do not. The filtrate is then collected in the Bowman's capsule for transport through the nephron.
The nephron itself will restore vital nutrients and water back into the blood, while retaining the waster products the body needs to eliminate. Two processes accomplish this task: tubular reabsorption and tubular secretion. During tubular reabsorption, cells in the proximal tubule remove water and nutrients from the filtrate and pass them back into the blood, wastes such as urea are retained in the tubule. During tubular secretion, wastes that were not initially filtered out in the bowman's capsule are removed from the blood in the distal tubule. Ammonia and many drugs are removed from the blood during tubular secretion.
The concentrated filtrate moves into the proximal tubule. Notice the capillaries that wrap around the tubules. At the points of contact with the tubule and the capillaries, water and nutrients are reabsorbed into the blood. In addition, wastes remaining in the blood after filtration are passed to the tubule. The filtrate flows from the proximal tubule and into the Loop of Henle. The loop of henle concentrates the filtrate, by removing more water from it, and passes it to the distal tubule. From the distal tubule it travels to the collecting duct - now called urine. The collecting duct prepares the urine for transport out of the body, it is collected in the renal pelvis where it eventually enters the ureter. From there it goes to the bladder.
Meanwhile, the blood capillaries that are twisted around the nephron join back to the renal vein, from there the blood travels to the posterior vena cava, eventually reaching the heart where it is oxgenated, but that is a topic for the "Circulatory System". (+ info
Is Shwachman-Diamond Syndrome concidered an inborn error of metabolism?
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
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