Author Topic: Maple Syrup Urine Disease???  (Read 16979 times)

Offline leslieincali

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Maple Syrup Urine Disease???
« on: September 19, 2008, 03:59:22 AM »

Has anyone ever heard of this?  I posted some questions on the diabetes thread. I had my son tested for diabetes because of several symptoms including urine that smelled like maple syrup. The test was negative. I just did a search and came up with this. Anyone have any experience with this rare disease. We do have a new Dr. now after moving. He does not yet think I'm crazy so I might have my son tested for this. He would be in the second category. His weight as a baby was fine although he slept about 20 hours a day. He has many of the sypmtoms. Any input?






http://rarediseases.about.com/od/rarediseases1/a/062004.htm

Offline ManyWeavers

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Re: Maple Syrup Urine Disease???
« Reply #1 on: September 19, 2008, 05:35:50 AM »
 Well, i don't know much about it but being from mennonite background i know of it. I had a couple of second cousins that had it. I always heard that it came from husband and wife being too closely related. For example, my grandparents are second cousins, i have aunts and uncles that are second cousins and if their kids married second cousins, the risk of diseases like that go much higher. Needless to say, i was forbidden to marry a second cousin.
  I also remember hearing about how one of the first signs of maple syrup urine disease was the urine smelling like maple syrup (of course) and the children then had to follow a very special diet.
I would think and hope that there's been advances in medicine since then, that was quite a while ago.
  Please keep us updated. 

Offline leslieincali

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Re: Maple Syrup Urine Disease???
« Reply #2 on: September 19, 2008, 07:03:09 AM »
Hmm... Well as far as I know my husband and I are not cousins.  :)That would be quite a shock. :o  I'm going to do more research when I get the time. Thanks for the info!

Offline healthyinOhio

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Re: Maple Syrup Urine Disease???
« Reply #3 on: September 19, 2008, 08:14:53 AM »
I have heard of this disease. It used to be on all those talk shows that I watched before salvation.
They said that your urine will smell exactly like maple syrup. The only other thing it could be is diabetes.  But if diabetes is ruled out, then it is usually the maple syrup disease.
From what I remember, the disease was fatal if not treated as an infant, so if your son is older, then I would be surprised if he had it.
I probably didn't help much did I?  ;D

Offline herbalmom

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Re: Maple Syrup Urine Disease???
« Reply #4 on: September 19, 2008, 08:39:56 AM »
When my DD (she's 16 y/o now) was born her test for Maple Syrup Urine Disease came up questionable so they retested her. The second test ended up fine & she didn't have it but from what they told me it has to due with not being able to metabolize a certain amino acid. From what I remember, it's a flaw in the metabolism, it's NOT inherited. There was never any mention that any children we had in the future would be more likely than average to have it.

From what I remember, it causes failure to thrive &/or mental retardation. The failure to thrive is probably why most babies that aren't treated to survive. That's as much as I know about it though. Wish I could be of more help.

As far as the urine smell itself, maybe he is detoxing something through his kidneys. I know that I can smell coffee, antibiotics, (haven't taken them in years but when I do, my urine smells strongly of antibiotics) & other things in my urine. Do you use maple syrup itself? If so, that may be what your smelling. By chance is he taking Fenugreek for anything or do you use it in cooking? It causes the urine to smell like maple syrup. Maybe molasses? That's one's a guess but I could imagine it maybe smelling like maple syrup in urine. Blessings ~herbalmom 

Offline healthybratt

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Re: Maple Syrup Urine Disease???
« Reply #5 on: September 19, 2008, 09:07:17 AM »
According to the write-up, this is a genetic thing, but since it's recessive, neither parents nor grandparents have to have it in order to pass it along.  It just means that both parents must carry the gene and pass it on to the child.
Quote

Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive[1] metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.[2]
Contents

    * 1 Diagnosis and symptoms
    * 2 Classification
    * 3 Management
    * 4 Genetic prevalence
    * 5 See also
    * 6 References
    * 7 External links

Diagnosis and symptoms

MSUD is caused by a deficiency of the metabolic enzyme branched-chain α-keto acid dehydrogenase (BCKDH), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products in the blood and urine.

The disease is characterized in an infant by the presence of sweet-smelling urine, with an odor similar to that of maple syrup. Infants with this disease seem healthy at birth but if left untreated suffer severe brain damage, and eventually die.

From early infancy, symptoms of the condition include poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, ketoacidosis, and neurological decline.

Classification

Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. The most common and severe form of the disease is the classic type, which appears soon after birth. Variant forms of the disorder may appear later in infancy or childhood and are typically less severe, but still involve mental and physical problems if left untreated.

There are several variations of the disease:

    * Classic Severe MSUD
    * Intermediate MSUD
    * Intermittent MSUD
    * Thiamine-responsive MSUD
    * E3-Deficient MSUD with Lactic Acidosis

Management

Keeping MSUD under control requires careful monitoring of blood chemistry and involves both a special diet and frequent testing.

A diet with minimal levels of the amino acids leucine, isoleucine, and valine must be maintained in order to prevent neurological damage. As these three amino acids are required for proper metabolic function in all people, specialized protein preparations containing substitutes and adjusted levels of the amino acids have been synthesized and tested, allowing MSUD patients to meet normal nutritional requirements without causing harm.[3]

Usually, patients are also monitored by a dietitian. Their diet must be adhered to strictly and permanently. However, with proper management those afflicted are able to live healthy, normal lives and not suffer the severe neurological damage associated with the disease.

Genetic prevalence
Maple syrup urine disease has an autosomal recessive pattern of inheritance.
Maple syrup urine disease has an autosomal recessive pattern of inheritance.

Maple syrup urine disease affects approximately 1 out of 180,000 infants.[4] Due in part to the founder effect,[5] however, MSUD has a much higher prevalence in children of Amish and Mennonite descent.[6][4]

Mutations in the following genes cause maple syrup urine disease:

    * BCKDHA (Online 'Mendelian Inheritance in Man' (OMIM) 608348)
    * BCKDHB (Online 'Mendelian Inheritance in Man' (OMIM) 248611)
    * DBT (Online 'Mendelian Inheritance in Man' (OMIM) 248610)
    * DLD (Online 'Mendelian Inheritance in Man' (OMIM) 238331)

These four genes produce proteins that work together as the branched-chain alpha-keto acid dehydrogenase complex. The complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food (particularly protein-rich foods such as milk, meat, and eggs). Mutations in any of these genes reduce or eliminate the function of the enzyme complex, preventing the normal breakdown of isoleucine, leucine, and valine. As a result, these amino acids and their by-products build up in the body. Because high levels of these substances are toxic to the brain and other organs, this accumulation leads to the serious medical problems associated with maple syrup urine disease.

This condition has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder.
from http://en.wikipedia.org/wiki/Maple_syrup_urine_disease

Quote
Alternative Names   
MSUD

Definition   

Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition smells like maple syrup.

Causes   

Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the branched-chain amino acids leucine, isoleucine, and valine. This leads to a build-up of these chemicals in the blood.

In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time).

MSUD also occurs in an intermittent form and a mild form. Even in the mildest form, infections can cause mental retardation and high levels of leucine.

Symptoms   

    * Avoiding food
    * Coma
    * Feeding difficulties
    * Lethargy
    * Seizures
    * Urine that smells like maple syrup
    * Vomiting

Exams and Tests   

    * Urine amino acid test
    * Plasma amino acid test

There will be signs of ketosis and acidosis (excess acid in blood).

Treatment   

Treatment involves a protein-free diet. During a flare up, fluids, sugars, and fats are given by IV. Peritoneal dialysis or hemodialysis are used to reduce the level of amino acids.

A special diet free of branched-chain amino acids is started immediately.

Long term treatment requires a special diet. The diet includes a synthetic infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently. It is very important to always stick to this diet to prevent neurological damage. This requires frequent blood tests and close supervision by a registered dietitian and a physician, as well as parental cooperation.

Outlook (Prognosis)   

This disease can be life threatening if untreated.

Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death may occur during these episodes. With strict dietary treatment, children have grown into healthy adulthood.

Possible Complications   

    * Coma
    * Death
    * Neurological damage

When to Contact a Medical Professional   

Call your health care provider if you have a family history of MSUD and are planning to start a family. Also call immediately if you have a newborn who exhibits symptoms suggestive of maple syrup urine disease.

Prevention   

Genetic counseling is suggested for prospective parents with a family history of maple syrup urine disease. Some states, such as Pennsylvania, screen all newborns for signs of MSUD.

If a screening test shows that your baby may have MSUD, a follow-up blood test for amino acid levels should be done right away to confirm the disease.
from http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm
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Offline leslieincali

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Re: Maple Syrup Urine Disease???
« Reply #6 on: September 19, 2008, 09:21:49 AM »
I have heard of this disease. It used to be on all those talk shows that I watched before salvation.
They said that your urine will smell exactly like maple syrup. The only other thing it could be is diabetes.  But if diabetes is ruled out, then it is usually the maple syrup disease.
From what I remember, the disease was fatal if not treated as an infant, so if your son is older, then I would be surprised if he had it.
I probably didn't help much did I?  ;D

The website above says this:

Intermediate MSUD is a more rare form. Individuals with this type have 3-30% of the normal level of BCKD enzyme, so symptoms may begin at any age.

In thiamine-responsive MSUD, individuals show some improvement when given thiamine supplements.

A very rare form of the disorder is E3-deficient MSUD, in which individuals have additional deficient metabolic enzymes.

I know I'm kind of reaching for straws here. My son could very well be a lazy kid with a sweet tooth. :-\ I had never heard of this disease until today. I googled, "urine smells like maple syrup". I actually started laughing when I got hits for Maple Syrup Urine Disease. I thought, "You have got to be kidding me, who made this one up?!"  I don't want to keep punishing him though if there is some physical reason for his behaviors. KWIM? 



« Last Edit: September 19, 2008, 09:24:42 AM by leslieincali »

Offline leslieincali

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Re: Maple Syrup Urine Disease???
« Reply #7 on: September 19, 2008, 09:31:02 AM »
Herbal mom,

We do eat maple syrup. For all I know, he gets up at night and drinks it. I shared in the diabetes thread that he sneaks sugar. I have not noticed the smell for a while, but I have not really been checking. We moved across country this summer and I was just too busy to focus on him much. The diabetes test was negative. The only supplement he takes is high vitamin cod-liver oil.(un-flavored)
We don't use molassas much. Thanks for taking the time to reply. I appreciate it! Leslie

Offline herbalmom

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Re: Maple Syrup Urine Disease???
« Reply #8 on: September 19, 2008, 01:08:36 PM »
Sneaking sugar almost always means yeast/fungus. My kids have STRONG carb cravings & will sneak sugar like you wouldn't believe (to the point of drinking sugar water) & will carb binge on fruits, etc. I have tried stocking up on say apple juice when it's on a good special & I can't because they will drink something like a 1/2 gal a day each. Stocking up on canned fruit means finding empty fruit cans around the house. Canning fruit, making jams, freezing berries to use for smoothies, etc with summer produce for winter is a great idea in theory but for us it would just mean that they would binge on it & eat it all in a short time. I ended up deciding not to make kombucha for just that reason- my kids would drink the fresh tea just to get the sugar in it. For us we have to buy fruit in small amounts- just enough for the family for a day or two.

Maybe this will give you some clues. HTH Blessings ~herbalmom

Offline Gabe Rising

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Re: Maple Syrup Urine Disease???
« Reply #9 on: September 19, 2008, 03:36:24 PM »
LOL - Beka here. I didn't realize Gabe was logged in!

The title of this thread got me interested because while I was pregnant I had the same symptom sometimes. I believe the same time I had the "Maple Syrup" I also had low blood sugar and proteinuria (protein in my urine) due to pre-eclampsia. The sweet smell was also on my breath ("ketones") indicating that I had blood sugar problems due to pancreatic stress (low sugar-metabolizing enzymes.)

 My urine cleared up with the Brewer's Diet and Bilberry.

The info that HB listed was interesting to me because it said basically that this MSUD condition is the lack of an enzyme that breaks down proteins (amino acids). This is very similar to the state of pre-eclampsia. The answer for me was to eat small amounts of proteins regularly, take enzymes, and take bilberry. Large infrequent meals caused the protein urea and toxicity.

Notice also that the article said to stop eating proteins (along with a lot of dread and doom prognostications). I believe this reveals the "God made my body broken" mentality common in the AMA. The key is to give your body what it needs to metabolize proteins. Eating proteins in smaller amounts, more frequently is a big step in the right direction, IMO.

The boy's craving for sugar could also indicate the need to eat more frequently. I know that I also craved food in general - especially carbs and sugars, and I did not have any yeast problems.  Once I began the Brewers Diet, the cravings were met.

Anyway, I'm not saying that this boy does have the MSUD or doesn't - but rather that the MSUD sounds a lot like pre-eclampsia, which is also not understood and "incurable" in the medical world.

Diet is everything. I recommend nuts, natural peanut butter, cheese, fish, and milk in moderate servings every few hours for a week or so. See if it clears up, and let us know, please!

Rebekah

Offline hi_itsgwen

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Re: Maple Syrup Urine Disease???
« Reply #10 on: September 19, 2008, 05:01:21 PM »
Along these lines, I have been researching good first foods for my baby.  I found an article on the Weston A. Price foundation about good first foods
http://www.westonaprice.org/foodfeatures/nourish-baby.html
It appears that some of the same elements may come into play in an infant's diet regarding what enzymes are available in a baby's digestive track. 

When I switched from the rice cereal to liver (we prefer to call it baby pate :)  she suddenly loved to eat, and was no longer constipated...even though liver has really high iron, which is supposed to be a constipator ???

Unpasturized milk and fermented foods are also examples of foods that come loaded with enzymes that aid in digestion.  I'm just wondering if you could work with his diet to aid his body in recovering some enzyme activity.  Just a thought.
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Offline leslieincali

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Re: Maple Syrup Urine Disease???
« Reply #11 on: September 20, 2008, 02:59:34 AM »
Herbalmom,
That is definately my experience. I go to make smoothies and find an opened ziploc bag with 1 chunk of frozen banana in it. ::) I will investigate your ideas further.

Becca,
I will check into the Brewer's diet and bilberry. I've not heard of those. He will snack on protein if I make it available.


He does have other quirky eating habits. Some are just kid things. One that I find odd is that he won't eat condiments on his sandwiches. Dry bread, meat, and a hunk of lettuce. I don't know how it slides down his throat. :)

Thanks everyone for the ideas. I have some more research to do.
« Last Edit: September 20, 2008, 03:06:08 AM by leslieincali »

Offline leslieincali

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Re: Maple Syrup Urine Disease???
« Reply #12 on: September 20, 2008, 03:11:56 AM »
Along these lines, I have been researching good first foods for my baby.  I found an article on the Weston A. Price foundation about good first foods
http://www.westonaprice.org/foodfeatures/nourish-baby.html
It appears that some of the same elements may come into play in an infant's diet regarding what enzymes are available in a baby's digestive track. 

When I switched from the rice cereal to liver (we prefer to call it baby pate :)  she suddenly loved to eat, and was no longer constipated...even though liver has really high iron, which is supposed to be a constipator ???

Unpasturized milk and fermented foods are also examples of foods that come loaded with enzymes that aid in digestion.  I'm just wondering if you could work with his diet to aid his body in recovering some enzyme activity.  Just a thought.



Hi Gwen,
When he was an infant our diet was awful.  I thought I was healthy because I lost my baby weight so fast! ::) I stopped nursing him at 9 months. He could not handle regular formula(would cry in pain) So I gave him that awful pre-digested kind. I can't remember the name now. Now I would consider our diet pretty healthy. It was better before we moved this summer. I'm looking for a source for raw milk. It was delivered to my garage fridge in CAlifornia! With that I made yogurt. That's the only fermented food I can get him to eat. He doesn't do sour or slimy(his word). I'm going to investigat more an see how I can get enzymes into him. Thank you so much!

Offline herbalmom

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Re: Maple Syrup Urine Disease???
« Reply #13 on: September 20, 2008, 07:29:11 AM »
Too be honest, I don't know why I didn't think of low blood sugar myself but it totally slipped my mind until I read Beka's post. It does also sound like low blood sugar or blood sugar swings. What's REALLY bad is that I HAVE low blood sugar myself, I've had it for most my life & all 3 kids & my DH have it as well. We've ALL went through carb cravings/binges when our blood sugar is bouncing. You would think I would have thought of it. DUH.  ::) ::) Sorry. Low blood sugar, yeast/fungus, allergies & leaky gut all tend to go together & set each other off anyways so often they are related.

BTW- another possibility is that he's eating something he's allergic to. That can also cause blood sugar swings, bottomless pit, cravings of all kinds including carb cravings & a bunch of other symptoms.

Here's some threads that might help:

my sons...bottomless pitt

I know this thread will seem like it can't apply but read replies 103-107:

Underweight Infants & Toddlers

Again, this thread may seem like it wouldn't apply b/c your DS is older but the info might help esp with your DS's history:

Failure to thrive

Hypoglycemia [Low Blood Sugar]: Causes & Cures

HTH Blessings ~herbalmom

Offline Leigh

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Re: Maple Syrup Urine Disease???
« Reply #14 on: May 25, 2009, 05:48:42 PM »
Hi Leslie -

I know this post was almost a year ago but could you please tell me if you ever got to the bottom of your son's issue? I have four children and three of them had what I called 'pancake pee'...my doctors always blew me off when I raised concerns.  My new doctor has taken me seriously as my youngest, at 7 months, is now having the same smell to his urine. We are underoging testing, blood and urine (for all four to compare) but I am interested in what you found out, if anything. I joined this group/forum just to contact you regarding this issue and would greatly appreciate any response.

Thanks -

Leigh

Offline frncesc

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Re: Maple Syrup Urine Disease???
« Reply #15 on: March 15, 2013, 04:12:26 AM »
Hi Leslie -

I know this post was almost a year ago but could you please tell me if you ever got to the bottom of your son's issue? I have four children and three of them had what I called 'pancake pee'...my doctors always blew me off when I raised concerns.  My new doctor has taken me seriously as my youngest, at 7 months, is now having the same smell to his urine. We are underoging testing, blood and urine (for all four to compare) but I am interested in what you found out, if anything. I joined this group/forum just to contact you regarding this issue and would greatly appreciate any response.

Thanks -

Leigh

Hi Leigh, I'm wondering how these tests turned out for your family? My son is currently being tested (we did urine test and blood test) and apparently are getting an appointment with a genetic team in a neighboring city. I know it has been quite some time since you posted but hopefully you find this, and all is well with you and your family.