Question 1

3y old smelled strongly maple syrup until age 2. she no longer does.i found out about msud and asked her dr. he said she would have other symptoms?

Accepted Answer

MSUD: MSUD is an inherited metabolic disorder that allows for build-up of certain proteins and subsequently their toxic by-products. Untreated, it leads to severe mental and physical disability and eventual death. There are several variations of the disease, one would expect symptoms of the toxin build-up (seizures, vomiting, lethargy etc) to be strongly prevalent the same time the urine smelled strongl

Question 2

what chromosome  is affected in msud (maple syrup urine disease)?

Accepted Answer

1, 6, and 19: Msud is caused when a tightly clustered group of proteins [branched-chain ketoacid dehydrogenase] does not work properly. This multienzyme complex has three subunits encoded by four different genes. Three of them - on chromosomes 1, 6, and 19, have been found to have mutations that can result in msud. The msud family support group (http://www.Msud-support.Org/) has more information.

Question 3

ive had alot of pain in my lower left side, and my urine smells really sweet and its cloudy is possible this is msud? i am 26 yo male

Accepted Answer

Diabetes: Sweet smelling urine is associated with elevated blood sugar and ketones spilling over into your urine. Please have your doctor check you for diabetes and possible kidney disease.

Best wishes

Question 4

hows maple syrup urine disease diagnosed?

Accepted Answer

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.

Question 5

is gene therapy for maple syrup urine disease?

Accepted Answer

Not Yet: Msud is a very rare genetic d/o where one is unable to break down the Amino Acids (aa): leucine, isoleucine, & valine. The degree to which an individual might be affected varies. In the us it is diagnosed with neonatal screening which takes place when the baby is around 24 hrs old. Treatment is with dietary avoidance of these aa to spare brain damage and possible death.

Question 6

what's maple syrup urine disease?

Accepted Answer

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.

Question 7

can a pedigree trace autosomal recessive or autosomal dominant diseases?

Accepted Answer

Sort of: Animals that are "bred" have pedigrees -- whether the term "family history" is more appropriate for people is one question. You'll see these all the time in genetics journals. Best wishes.

Question 8

how is maple syrup urine disease diagnosed?

Accepted Answer

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.

Question 9

how id pku inherited?

Accepted Answer

Recessive: This means that the abnormal gene has to come from both parents who each have a single gene that makes them a genetic "carrier". This is more likely to occur when the parents are related as e.G 1st cousins. Although legal it is a risky union. We all have a chance of being a carier like this for many diseases. The disease will only occur if spouse has the same gene.

Question 10

how is cf inherited?

Accepted Answer

From both parents: CF is an autosomal recessive disorder meaning the infant must inherit a mutated or abnormal copy of the CF gene from both the mother and the father.  If both parents are carriers of a CF mutation, the odds of the infant having CF are 1 out of 4 or 25% for every pregnancy.

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Doctor answers about:

Msud

A member asked:

3y old smelled strongly maple syrup until age 2. she no longer does.i found out about msud and asked her dr. he said she would have other symptoms?

A member asked:

What chromosome is affected in msud (maple syrup urine disease)?

A member asked:

Ive had alot of pain in my lower left side, and my urine smells really sweet and its cloudy is possible this is msud? i am 26 yo male

A member asked:

Hows maple syrup urine disease diagnosed?

A member asked:

Is gene therapy for maple syrup urine disease?

A member asked:

What's maple syrup urine disease?

A member asked:

Can a pedigree trace autosomal recessive or autosomal dominant diseases?

A member asked:

How is maple syrup urine disease diagnosed?

A member asked:

How id pku inherited?

A member asked:

How is cf inherited?

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