10 Symptoms Of Maple Syrup Urine Disease

Maple syrup urine disease (MSUD) is a rare and recessive metabolic condition that makes it difficult for the body to break down certain amino acids. This condition affects 1 in 185,000 children all over the world, typically between the ages of five months and seven years.

Untreated MSUD can cause serious physical and neurological problems, and it can even be fatal, so keep a close eye on the following symptoms…

1. Maple Sugar Smelling Bodily Substances

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MSUD’s most prominent symptom is the distinctive maple sugar odor that comes with the affected person’s bodily substances like sweat, earwax, and urine.

Nutrition becomes complicated with MSUD, as the next symptom shows…

2. Feeding Problems

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When MSUD affects a child, it makes them lose their appetite. Infants, on the other hand, tend to have weak feeding abilities while breastfeeding. Naturally, this impedes their bodily growth and development.

As if feeding problems weren’t enough, this next symptom can happen, too…

3. Vomiting

Apart from poor feeding, children with MSUD tend to vomit every now and then. This is due to the fact that MSUD is considered a metabolic disorder, which usually causes frequent bouts of nausea and vomiting.

With poor nutrition, this next symptom doesn’t come as a surprise…

4. Lethargy

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Like nausea and vomiting, lethargy is likewise a common symptom of most metabolic disorders. As a result, kids born with MSUD tend to be weak, sluggish, and easily fatigued.

As MSUD progresses, it can cause serious problems, such as…

5. Abnormal Muscle Movements

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MSUD can affect a person’s bodily movements, specifically because it can cause tremors, uncontrollable muscle contractions, and back arching. None of these abnormal movements are comfortable, especially for children, so it’s a good idea to keep an eye out for any problems.

Unfortunately, muscle problems don’t stop there…

6. Changes In Muscle Tone

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The symptoms of MSUD can create significant problems with a child’s muscle tone. Hypertonia, for example, causes excessive muscle tone, which makes movement difficult. Hypotonia, on the other hand, decreases muscle tone, which makes the child feel limp.

MSUD can also affect your resting state…

7. Sleep Problems

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Sleep for a kid suffering from MSUD is anything but comfortable. This disorder has been known to cause persistent sleep disturbances and even apnea, which results in the child having irregular sleep patterns.

Some things just turn up a notch for the worse…

8. High-Pitched Crying

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Children afflicted with MSUD are more hypersensitive and irritable, and as a result, they tend to cry incessantly. Take notice that the sound of their crying is louder and has a higher pitch than usual when they have MSUD.

Underestimating this condition can lead to grave consequences…

9. Life-Threatening Complications

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In the event the condition is neglected or worsens, the child might suffer life-threatening seizures, convulsions, respiratory failure, or comatose in a matter of days, and even die within months. This is why it is critical to consult their pediatrician right away if you suspect any symptoms.

And, MSUD can leave damaging and lasting effects on the body…

10. Developmental Delay

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With or without the complications, the risk of a child suffering developmental delay is still at large. Developmental skills like basic motor functions, speech, cognitive, social, and even learning skills can be long-term or even permanent unless immediate treatment takes place.


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