Top
30
Doctor insights on: Medicine For Maple Syrup Urine Disease

Share
1

1
What's maple syrup urine disease?

What's maple syrup urine disease?

A genetic disease: Infants with msud lack an enzyme to break down Amino Acids (proteins) in their diet, so the acids accumulate in their blood and tissues and become toxic, causing sweet-smelling urine, ear wax, etc-hence the name-but also brain damage. Each parent contributes one gene for this, so the parents are usually carriers. It is very rare (1:180, 000 births) and screened for in the blood test after birth. ...Read more

Urine (Definition)

Urine is the product of the kidneys, which is produced to eliminate the waste products of metabolism, manage body fluid balance, &maintain acid-base balance. The blood is first filtered by the kidneys, and the composition of the resulting fluid is then altered depending on the body's needs. It is composed of mostly water, and breakdown products from blood cells impart ...Read more


2

2
What is maple syrup urine disease?

What is maple syrup urine disease?

Good Info Here: Please check out this website. It has really good information and should be resourceful for you. Http://msud-support. Org/. ...Read more

3

3
How's maple syrup urine disease diagnosed?

How's maple syrup urine disease diagnosed?

See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids (leucine, isoleucine, and valine). Urine organic acid measurement will detect elevated levels of branched-chain ketoacids, lactate, and pyruvate. ...Read more

4

4
Can you explain maple syrup urine disease?

Can you explain maple syrup urine disease?

Genetic disorder: Maple syrup urine disease is an inherited genetic disorder of protein breakdown. It is now often diagnosed by newborn screen. A good general information site can be found at http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh0001411/. ...Read more

5

5
How is maple syrup urine disease diagnosed?

How is maple syrup urine disease diagnosed?

Newborn screen: In the US, MSUD is part of the newborn screen all babies get before leaving the hospital, but it's usually symptomatic in the first weeks after birth when amino acids start to accumulate in the blood. Symptoms are poor feeding, irritability, seizures, and smelly urine. Definitive test is quantitative plasma amino acids, and is usually done on day of life 2 if there is a family history of MSUD. ...Read more

6

6
What are the symptoms of maple syrup urine disease?

What are the symptoms of maple syrup urine disease?

Mental retardation: This disease occurs statistically in 1 in 10000 births. Urine smells exactly the same as the vermont maple syrup. Being recessive, both parents have to give the gene to theiroffspring. That is why it is more risky to marry a cousin. ...Read more

7

7
Please tell me what causes maple syrup urine disease?

Please tell me what causes maple syrup urine disease?

Recessive defect: Msud is an inherited defect in in metabolism. This results when two asymptomatic carrier parents give their fetus a defective gene. After birth, the baby will lack an enzyme needed to break down branch chained protein structures. These build up in the blood ; spill into the urine producing the characteristic odor. The parents are unaffected because a single copy of the normal gene do the work. ...Read more

8

8
Who was the first ti discover maple syrup urine disease?

Who was the first ti discover maple syrup urine disease?

Maple Syrup Urine: Disease was discovered by a pediatrician named Dr. John Menkes in 1954. ...Read more

9

9
What is maple syrup urine disease and how is it treated?

What is maple syrup urine disease and how is it treated?

Good Info Here: Please check out this website. It has really good information and should be resourceful for you. Http://msud-support. Org/. ...Read more

10

10
How does the maple syrup urine disease affect your body?

How does the maple syrup urine disease affect your body?

Good Info Here: Please check out this website. It has really good information and should be resourceful for you. Http://msud-support. Org/. ...Read more

11

11
What puts a person at risk for maple syrup urine disease?

What puts a person at risk for maple syrup urine disease?

Origin/genes: This is a rare defect of metabolism named for the sweet maple syrup smell of patients urine.It occurs in about 1/150, 000 births worldwide with a higher frequency in the older Mennonite community. New cases appear when two asymptomatic "carrier" parents give their one defective gene to create the gene pair in the affected infant. Most parents of a new case never knew they were at risk. ...Read more

12

12
What is the history of one with maple syrup urine disease?

What is the history of one with maple syrup urine disease?

Lots of info: Please see this website for info: www. Msud-support. Org it has lots of great information for families. ...Read more

13

13
Can you tell me the risk factors for maple syrup urine disease?

Can you tell me the risk factors for maple syrup urine disease?

Your genes: Msud is a genetic disorder. It occurs about 1:300000 although in some populations like mennonites the risk is as high as 1:300. There are multiple different genes associated with this disorder but all are involved in the metabolism of branched chain amino acids. The risk of having msud depends on the carrier status of your parents. Similarly, the risk to offspring depends on your carrier statu. ...Read more

14

14
I just had a maple syrup urine disease diagnosis, what can I expect?

I just had a maple syrup urine disease diagnosis, what can I expect?

Not sure: Msud is typically diagnosed shortly after birth or before age 1. Frankly I am skeptical of a diagnosis in an adult and suggest you return to the doctor that made this diagnosis and ask for a referral to a metabolic geneticist - to confirm the diagnosis and get proper genetic counseling. ...Read more

15

15
What is the definition or description of: Maple syrup urine disease?

What is the definition or description of: Maple syrup urine disease?

Maple Syrup Urine: Disease is an inherited metabolic disorder in which the body is unable to process certain protein building blocks (amino acids). Also known as branched chain ketoaciduria. People with this disorder have urine that smells like maple syrup as a result. The smell is from the buildup of certain amino acids and toxic byproducts in the urine and sweat. ...Read more

16

16
What are some of the difficulties with having maple syrup urine disease?

Maple syrup urine di: Neurological damage, increased risk with infections and periods of body stress. Diet free of leucine, isolucine, and valine is recommended. ...Read more

17

17
What should I expect after being diagnosed with maple syrup urine disease?

What should I expect after being diagnosed with maple syrup urine disease?

Lots of info: Please see this website for info: www. Msud-support. Org it has lots of great information for families. ...Read more

18

18
Which particular type of person can be affected by maple syrup urine disease?

Which particular type of person can be affected by maple syrup urine disease?

Maple syrup urine: If you have access to a computer or can go to a nearby library please look up

ghr. Nlm. Nih. Gov/condition/maple-syrup=urine-disease

This is not the "type of person" but is more often family related. ...Read more

19

19
Is there a particular type of person who is more affected by maple syrup urine disease?

Genetic: This disease is genetic, passed down from affected parents. It has a higher prevalence in persons of amish, mennonite, and jewish descent. ...Read more

20

20
I, m doing a project on maple syrup urine disease and I need to know what causes it and why or how?

I, m doing a project on maple syrup urine disease and I need to know what causes it and why or how?

Good Info Here: Please check out this website. It has really good information and should be resourceful for you. Http://msud-support. Org/. ...Read more

21

21
What are the risks for maple syrup urine disease?

What are the risks for maple syrup urine disease?

Brain damage: Maple syrup urine disease (msud) is caused by a gene defect. Persons with this condition cannot break down the Amino Acids leucine, isoleucine, and valine. This leads to a buildup 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). Some types of msud are mild however. ...Read more

22

22
Mortality rate with maple syrup urine disease?

Mortality rate with maple syrup urine disease?

Varies: This autosomal recessive genetic disorder of branched chain ketoaciduria requires testing and strict dietary adherence for management. If this is followed, individuals can lead normal lives with excellent health, exempting them from the neurologic complications which are responsible for morbidity and mortality. ...Read more

23

23
The mortality rate with maple syrup urine disease?

The mortality rate with maple syrup urine disease?

Depends: The earlier the disease is detected and the patient is placed on an appropriate diet, the better the long term prognosis is. ...Read more

24

24
Questions on maple syrup urine disease? Do the amish mainly get it?

Questions on maple syrup urine disease? Do the amish mainly get it?

More common: For a rare disease, msud is much more prevalent among the old order mennonite population in lancaster county, pa. Incidence rates are estimated around 1:760 births as opposed to a worldwide incidence of 1:290, 000. ...Read more

25

25
What location is maple syrup urine disease located on the chromosomes?

What location is maple syrup urine disease located on the chromosomes?

There are several: The data center at the national library of medicine lists several. These include chromosome 1, 4, 6, 7 and 19 with some indication mitochondrial dna can be also be involved. ...Read more

26

26
What natural test booster should I take if I have maple syrup urine disease?

What natural test booster should I take if I have maple syrup urine disease?

Good Info Here: Please check out this website. It has really good information and should be resourceful for you. Http://msud-support. Org/ I don't know what you mean by natural booster, however. ...Read more

28

28
Besides maple syrup urine disease, are there some other causes of urine that smells sweet like syrup?

Besides maple syrup urine disease, are there some other causes of urine that smells sweet like syrup?

Possibly diabetes: To my knowledge, uncontrolled diabetes might also cause this, but I would expect the person to also have weight loss, and frequent urination besides just a sweet smell to the urine. ...Read more

29

29
Was my three year old born in Utah 2011 tested for maple syrup urine disease? Is it a standard test? She smelled of maple until age2.She he all tests

Was my three year old born in Utah 2011 tested for maple syrup urine disease? Is it a standard test? She smelled of maple until age2.She he all tests

Probably, Use Google: & check: http://www. Newbornscreening. Info/Parents/aminoaciddisorders/MSUD. Html & http://www. Babysfirsttest. Org/newborn-screening/conditions/maple-syrup-urine-disease-msud, which reports that this is currently screened for in the state of Utah. However, to be certain, ideally check your child's newborn hospital examination records. Also see: http://en. Wikipedia. Org/wiki/Maple_syrup_urine_disease. ...Read more

30

30
What test for maple syrup urine disease?

What test for maple syrup urine disease?

See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids (leucine, isoleucine, and valine). Urine organic acid measurement will detect elevated levels of branched-chain ketoacids, lactate, and pyruvate. ...Read more