Maple Syrup Urine Disease: The Rare Disease I Guarantee You've Never Heard Of
A List of Common Questions About MSUD
With Rare Disease Day just around the corner (mark your calendars for 2/28!), I wanted to share some important information about an illness that I have to live with every day: Maple Syrup Urine Disease. Most people have never heard of MSUD before, including the nurses at my university's student health center. However, considering that it is extremely rare, I can't say that I blame anyone for not being educated on the topic. And that's why I'm here, to educate. Below you'll find a list of questions that I have been asked about my disorder, as well as questions that I myself have asked. That being said, we don't know everything there is to know about MSUD, but it is still important to learn what you can, so read on if you want to learn something new about a disease that impacts about 0.00054% of live births.
What is MSUD?
Maple Syrup Urine Disease is a rare autosomal recessive metabolic disorder caused by a defect in the enzymes that break down amino acids, specifically amino acids leucine, isoleucine, and valine.
Why is it called Maple Syrup Urine Disease?
It is called Maple Syrup Urine Disease because it causes the urine and earwax of patients to smell sweet, like maple syrup.
What are the subdivisions of MSUD?
Classic MSUD is the most common and severe form, and is characterized by basically no enzyme activity. Symptoms usually show up within 2-3 days of birth, and it must be treated promptly to avoid the threat of seizures, coma, and death. Symptoms can be triggered by even mild infection, physical or psychological stress, trauma, or fasting.
Intermediate MSUD is characterized by some residual enzyme activity, and the majority of patients with this type are diagnosed between 5 months and 7 years of age. Symptoms are similar to those of the classic type.
Intermittent MSUD is characterized by normal growth and intellectual development, and patients with this type can usually tolerate normal levels of protein in their diet. However, symptoms are provoked by the same stressors as in the classic type.
Thiamine-responsive MSUD responds to treatment with a large dose of thiamine (vitamin B1) supplement. The presentation is similar to that of intermediate MSUD, and is rarely diagnosed during the newborn period. However, no thiamine-responsive patients can be or have been treated with only a thiamine supplement, and most also follow a low-protein diet.
Some patients do not fit any of these categories, so their MSUD is labeled unclassified.
What are the symptoms of MSUD?
For children with the classic type, the usual symptoms include poor feeding, increased lethargy, and irritability. Without treatment, the symptoms can worsen, and lead to abnormal movements, hypertonia, and spasticity. This can then lead to seizures, coma, and even death. Additionally, if left untreated, MSUD can lead to neurological and developmental delays and other cognitive problems.
The most famous symptom of MSUD is the sweet-smelling urine and earwax that occurs during periods of metabolic crisis. However, this usually can’t be detected during periods of metabolic stability.
Symptoms of a flare up, called a metabolic crisis, include vomiting, irritability, lack of energy, trouble breathing, muscle spasms, and seizures.
How is MSUD diagnosed?
MSUD is diagnosed with a blood test during newborn screening. For some subtypes, such as intermittent and intermediate, it isn’t diagnosed until the child is a bit older and starts showing symptoms. Then, doctors may check amino acid levels in the blood and urine.
How common is MSUD?
MSUD is estimated to occur in 1 in 185,000 live births. It is more common in the Mennonite population, as well as the Ashkenazi Jew population.
What causes MSUD?
MSUD is caused by mutations in the BCKDHA, BCKDHB, and DBT genes. These are genes that provide instructions for making proteins, and mutations can reduce or eliminate the function of the protein complex, which prevents the breakdown of some amino acids.
Why is MSUD such a big deal?
As previously stated, MSUD is caused by mutations in the genes responsible for the complex that breaks down proteins and amino acids, meaning that some amino acids aren’t getting broken down. However, high levels of amino acids are toxic to the body, so the accumulation of them causes severe health problems, such as seizures, coma, neurological problems, and death. This disorder is very serious and can be life-threatening if left untreated.
What is a metabolic crisis?
A metabolic crisis is essentially a flare up of MSUD, and can lead to serious symptoms such as serious illness and long-term brain damage. It can be triggered by physical and psychological stressors, trauma, fasting, and illness. This is why any illness, no matter how mild, can be very dangerous for someone with MSUD.
What are the symptoms of a flare up?
The symptoms of a flare up, called a metabolic crisis, include lethargy, ataxia, nausea and vomiting, and repeated diarrhea. An untreated flare up can lead to severe illness, seizures, brain damage, and life-threatening neurological conditions.
Is there a cure for MSUD?
The only way to “cure” MSUD is by getting a liver transplant. With a new liver, people with MSUD can now break down and process amino acids, meaning patients can now eat an unrestricted diet and live without symptoms. Obviously, transplants come with their own set of risks, so this may not be the best option for every patient.
How is MSUD treated?
Treatment for MSUD varies depending on the patient’s subtype and individual needs. However, it generally involves a protein-restricted diet, supplements, and frequent monitoring of the condition.
What are the complications associated with MSUD?
Complications include brain damage, neurological problems, developmental delays, loss of bone mass, pancreatitis, increased risk of ADHD, increased blood pressure in the skull that can cause chronic headaches, movement disorders, coma, and death.
Where did you get this information?
Maple Syrup Urine Disease by Cleveland Clinic: https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease
Maple syrup urine disease by the Genetic and Rare Disease Information Center: https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease
Maple syrup urine disease by the NHS: https://www.nhs.uk/conditions/maple-syrup-urine-disease/
Maple Syrup Urine Disease by NORD: https://rarediseases.org/rare-diseases/maple-syrup-urine-disease/
Maple syrup urine disease by MedlinePlus: https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease/#synonyms
Maple Syrup Urine Disease by KidsHealth, reviewed by Dr. Matthew M. Demczko: https://kidshealth.org/en/parents/msud.html
About the Creator
Celia Pyburn
Welcome, friends! I write everything from fiction to opinion pieces to political essays, so there's almost certainly something here for you. Feel free to stay as long as you like!
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