Talk about a sticky situation.
There are many culprits that can change the smell of urine, such as asparagus or Brussels sprouts, which can cause a rotten-egg smell, or a fishy odor due to an STI.
Oftentimes, health conditions are the cause of unusual smelling pee breaks, including ‘maple syrup urine disease’ (MSUD), a potentially life-threatening condition.
A rare genetic disorder often affecting infants and children, this condition is a metabolic disorder that disrupts how the body breaks down food and results in death if left untreated.
Those with MSUD have trouble breaking down three amino acids, the building blocks of protein: leucine, isoleucine and valine.
This causes amino acids to build up, along with their toxic byproducts, resulting in urine, earwax or sweat that smells like maple syrup or burnt sugar.
The four types of the disease include:
- Classic, or the most common and severe form, occurs within 48 hours after birth
- Intermediate, while less severe than classic MSUD, often appears in children between 5 months and 7 years old
- Intermittent MSUD occurs after an infection or a period of stress in children
- Thiamine-responsive is treated with high doses of vitamin B1 (thiamine) and a restricted diet
While MSUD is extremely rare — it affects about 1 in every 185,000 babies around the world — certain populations with small gene pools, like Ashkenazi Jews and Mennonites, experience higher occurrences.
Besides sweet-smelling urine, other symptoms can include lethargy, irritability, fussiness or not eating.
If left untreated, the illness can worsen and cause a metabolic crisis, or when the ability to break down food malfunctions.
Signs of a metabolic crisis can include abnormal muscle spasms, seizures, vomiting or coma.
The toxic buildup can damage several organs and cause further complications, such as brain damage, developmental delays, increased risk of ADHD, loss of bone mass, chronic headaches and movement disorders.
Those born with the genetic mutation that causes MSUD inherited mutated genes from both parents and have little to none of the enzymes (chemicals) that help the body break down amino acids.
Prenatal testing can determine if a fetus has the condition, or blood tests can be done after the baby is born.
However, those with intermediate, intermittent or thiamine-responsive MSUD may not show signs until later in childhood.
To control the amino acid levels, a strict diet that limits protein needs to be followed, along with lifelong monitoring and tests checking urine and blood, as well as high doses of vitamin B1 for those with thiamine-responsive MSUD.
Liver transplants are a successful way to treat MSUD, as a new organ can produce the enzymes needed to properly break down the amino acids, allowing a patient to live without symptoms.
