What is a maple baby?

Babies with MSUD

MSUD

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine and earwax, particularly prior to diagnosis and during times of acute illness.

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Maple syrup urine disease - Wikipedia

are unable to break down amino acids called leucine, isoleucine and valine. Very high levels of these amino acids are harmful. One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name.

What is maple syrup syndrome?

MSUD. Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup.

What is the life expectancy of someone with maple syrup urine disease?

If untreated, life-threatening coma or respiratory failure could occur within 7 to 10 days and most will die within several months.

Why does a baby smell like maple syrup?

Maple syrup urine disease (MSUD) is a condition in which the body is unable to break down certain proteins. The condition is named for the sweet odor of the urine of untreated babies.

Can MSUD be cured?

Maple syrup urine disease is treatable when found early. Doctors will closely watch kids who have it. Some people with MSUD may have episodes of metabolic crisis.

Maple Baby Fun Sensory Video

What happens if MSUD is left untreated?

Without treatment, severe, life-threatening symptoms can develop, including seizures (fits) or falling into a coma. Some children with untreated MSUD are also at risk of brain damage and developmental delay.

Why does maple syrup urine stink?

The underlying defect disrupts the metabolism of certain amino acids. These are amino acids that have a branched side chain. Because they cannot be fully broken down, they accumulate in the urine, along with their metabolites (alpha-ketoacids) to give the distinctive smell.

How rare is MSUD?

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.

Can you get MSUD later in life?

Though it is very rare for older children and adults to develop the disease, you should contact your doctor any time you detect a maple syrup smell in urine or sweat.

Why do babies smell good?

The smell of a newborn is likely thought to be a combination of chemicals secreted through sweat glands, lingering amniotic fluid and vernix caseosa, the white cheese-like cream that covers babies at birth; all this combined, is thought to create a combination of intoxicating medley aroma that nature designed to pull ...

Why does my kids pee smell like maple syrup?

MSUD stands for “maple syrup urine disease.” It is named for the sweet maple syrup smell of the urine in untreated babies. This condition is one type of amino acid disorder. People with MSUD have problems breaking down certain amino acids found in protein.

Why does my room smell like maple syrup?

If you notice that air smells like maple syrup, it could be that there is mold in your house. As you probably already know, mold is a serious issue that can affect your health, especially if you're experiencing allergies or respiratory issues.

What type of diet should be prescribed for MSUD patients?

Individuals with MSUD must remain on a protein-restricted diet that limits the amount of branched-chain amino acids they can eat. Protein-restriction must start as soon as possible after birth to promote proper growth and development.

How is MSUD diagnosed?

When symptoms show up after the newborn period, diagnosis of MSUD can be made by a urine analysis or blood test. A urine analysis can detect a high concentration of keto acids, and a blood test can detect a high level of amino acids.

How does MSUD affect the brain?

Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with life-threatening cerebral oedema and dysmyelination in affected individuals. Treatment requires life-long dietary restriction and monitoring of branched-chain amino acids to avoid brain injury.

Why does my baby's pee smell sweet?

Sweet-Smelling Pee

This may sound a little odd, but your baby's pee might smell sweet like maple syrup. This odor indicates a rare, serious illness called Maple Syrup Urine Disease (MSUD), which typically shows signs either within the first three days of birth or between 5 months and 7 years.

Is maple syrup urine disease tested at birth?

Routine newborn metabolic screening for maple syrup urine disease (MSUD) has been available since 1964. This screening is performed in all 50 United States and in various parts of the world. The test is performed within 24-48 hours following birth.

Is MSUD genetic?

MSUD is caused by genetic variants in the BCKDHA, BCKDHB, or DBT genes. It is inherited in an autosomal recessive pattern. Diagnosis of MSUD is based on the symptoms, clinical exam, and blood and urine testing. MSUD is often diagnosed based on the results of a newborn screening test.

What causes maple syrup disease?

Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes. People with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.

Why does my child's pee smell sweet?

Maple syrup urine disease is a genetic disorder where a person cannot process certain proteins. It is an inherited disorder, and a parent may notice their baby or child has sweet-smelling urine. This disorder may be fatal if left untreated. It is possible for children to develop less severe forms of the disorder.

Why do I smell pancakes?

Phantosmia is a condition that causes you to smell things that aren't actually there. It's also called olfactory hallucination. The smells may always be present, or may come and go. They may be temporary or last for a long time.

Why does my sweat smell sweet?

You May Have Diabetes, Or Liver Or Kidney Problems

"For example, people with diabetes have trouble breaking down glucose in the body, so you may notice that diabetics' breath often smells sweet because of a build-up of glucose."

How is MSUD managed in the long term?

The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs).

Can babies with MSUD breastfeed?

All baby milks (including breast milk) contain more protein than can be tolerated by babies with MSUD. Breast feeding is still encouraged but the amount of milk a baby with MSUD is given will be measured and controlled. Your Specialist Metabolic Dietitian will advise you on this.

What foods to avoid if you have MSUD?

Successful treatment of MSUD involves the following: Foods to avoid: High protein foods such as meat, fish, chicken, eggs, milk, cheese, yogurts, soya, nuts, bread, pasta and chocolate are generally too high in leucine, isoleucine and valine and are not allowed in the diet.