We know that it can be difficult to receive the correct diagnosis for a rare disease. Sometimes, you have to be your own advocate. This means learning everything you can, diving into the rare disease field. Learning and recognizing symptoms are essential, as you can then relay them to your doctor. An article in RocketFacts.com lays out ten symptoms of one rare disease: maple syrup urine disease (MSUD).

Recognizing MUSD

Maple syrup urine disease is a rare, metabolic condition that occurs when the body cannot break down amino acids. Either the DBT, BCKHB, or BCKDHA genes are mutated in affected individuals, and they are passed down in an autosomal recessive pattern. These altered genes lead to these ten characteristic symptoms:

1. Bodily substances (earwax, urine, sweat, etc.) that smell similar to maple syrup
2. A loss of appetite leading to feeding problems.
   1. This leads to growth and development issues as well
3. Nausea and vomiting
4. Lethargy
5. Abnormal muscles movements, such as back-arching, uncontrollable contractions of the muscles, and tremors
6. Muscle tone issues: Hypertonia (increased muscle tone) or hypotonia (decreased muscle tone)
   1. This symptom makes movement difficult
7. Sleep disturbances
   1. Sleep apnea is a possible symptom
8. Incessant, high-pitched crying due to hypersensitivity and irritability
9. Developmental delay
10. Complications
    1. Seizures, coma, respiratory failure, convulsions, and death

It is absolutely essential to seek treatment if you notice your child has these symptoms (they tend to manifest between five months and seven years of age). Without the proper therapy, children can experience severe complications and long-lasting impacts. MSUD can be fatal as well. This is why recognizing the symptom and obtaining the correct diagnosis are so important.

When treating this rare metabolic condition, doctors aim to maintain healthy levels of amino acids. They are also constantly prepared for a metabolic crisis, which requires immediate intervention. Affected individuals should go on a special diet that restricts proteins, therefore limiting the amount of amino acid entering the body. This diet will include a special formula to deliver necessary nutrients without the amino acids. Thiamine therapy and genetic counseling are also recommended.