The uncommon genetic condition known as Maple Syrup Urine Disease (MSUD) results in the distinctive scent of maple syrup in the urine. If you have a maple syrup urine disease, some amino acids are not processed by your body. This results in an unusual buildup of toxins in the blood. Protein sources are often broken down into amino acids by the body, which also eliminates any extra amino acids. MSUD patients lack the enzyme activity required to cleave the three different types of amino acids found in all protein-containing diets. Maple syrup urine disease is a rare condition. Without treatment, it may result in consequences that could be fatal.

MSUD has four types: (1) Classic, (2) Intermediate, (3) Intermittent, and (4) Thiamine-responsive

Classic MSUD. Usually seen 24 to 48 hours after birth; warning signs can include the following: a maple syrup smell in the urine; weight loss; poor feeding; vomiting; irritability; a tense, arched posture; lack of energy; seizures; muscle tone that changes between limp and stiff; fluid collection in the brain. Classic MSUD can cause respiratory collapse and death if left untreated. Diet should be very low in protein.

Intermediate MSUD. Symptoms might appear as early as the first month of birth. Intermediate MSUC, however, may occasionally be undiagnosed until much later in life. Most kids between the ages of 5 months and 7 receive a diagnosis. Will have signs and symptoms; and risks that are comparable to those of the condition's classic form but less severe. Symptoms also include: lethargy; poor growth; ataxia, which refers to a group of conditions that affect a person’s balance, coordination, and speech; maple syrup odor to earwax, sweat, and urine. Even when a person can handle a little bit more protein in their diet, they may falter when sick.

Intermittent MSUD. Symptoms may be seen between one to two years old. The same or comparable symptoms exist in classic MSUD. The growth and intellectual development of people with intermittent MSUD are typical. They might also be able to handle protein at normal quantities. A person may experience symptoms, though, if they are unwell, fasting, or have consumed a lot of protein.

Thiamine-responsive MSUD. Symptoms of this form are comparable to those of intermediate MSUD. A different form of MSUD, will typically respond well to large doses of thiamine. Can have some protein in their diet.

A baby with the syndrome is born every 185,000, according to the National Organization for Rare Disorders. It is autosomal, this shows that a person’s gender doesn’t affect their risk of getting the condition. A genetic mutation is the cause of the rare condition MSUD. Both biological parents must be affected by the change in order to pass it on to the child.

Cases of MSUD was diagnosed by Doctors via newborn screening programs. After being born, Doctors will take a single blood sample to sense the occurrence of different conditions, including MSUD. If signs appear later, Doctors can diagnose it during a repetitive urine analysis and may also be noticed in the presence of a maple syrup-like smell.

MSUD commonly manifests within the first four weeks of birth and age eleven. Once a youngster is between 1 and 2 years old, intermittent MSUD symptoms can start to manifest. People can live full lives into adulthood if they follow a strict diet and deal with metabolic crises as soon as they occur, according to a certified health professionals/medical experts.

AA I Floricel N. Denopol, RND

References

Maple syrup urine disease

https://www.nhs.uk/conditions/maple-syrup-urine-disease/

Maple syrup urine disease: mechanisms and management

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593394/

Maple Syrup Urine Disease

https://www.babysfirsttest.org/newborn-screening/conditions/maple-syrup-urine-disease-msud

What to know about maple syrup urine disease

https://www.medicalnewstoday.com/articles/maple-syrup-urine-disease?