Health conditions are often the cause of unusually smelly pee breaks, including ‘maple syrup urine disease’ (MSUD), a potentially life-threatening condition.
Those with MSUD have trouble breaking down threeThis 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.
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 oldThiamine-responsive is treated with high doses of vitamin B1 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. The condition causes trouble breaking down three amino acids, resulting in toxic buildup and sweet-smelling urine.
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.
The toxic buildup can damage several organs and cause further complications, such as brain damage, developmental delays, increased risk ofThose born with the genetic mutation that causes MSUD inherited mutated genes from both parents and have little to none of the enzymes 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.
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