Concerns About My Mother's Possible MSUD Diagnosis at 55
Hello, I felt compelled to share my concerns regarding my mother's health and get some insight from others. At 55 years old, she leads a health-conscious lifestyle, not smoking or drinking, yet she has a medical background that includes hypertension, elevated cholesterol levels, and arthritis. Recently, she visited her doctor due to an unusual sweet aroma in her urine, reminiscent of sugary snacks. Along with this, she has been experiencing severe pain in her sides and lower back, initially leading us to suspect kidney issues. Tests revealed a high protein concentration in her urine, but diabetes has been excluded as a cause. For several weeks now, she has been providing urine samples, all of which consistently display high levels of protein and blood. In response, her physician increased her blood pressure medication and made adjustments to evaluate whether hypertension might be the underlying reason for her symptoms. Unfortunately, her blood pressure continues to remain elevated. A referral was made to the renal department, which has reviewed her ultrasound and urine test results. Based on their evaluation of her symptoms, they have proposed a diagnosis of Maple Syrup Urine Disease (MSUD). However, her doctor disagrees, maintaining that the issue likely lies with her kidneys. It is worth noting that we have also pointed out to her that her body odor has a syrup-like quality. My mother is feeling quite helpless and is anxious to discover what is actually wrong with her health. I have read that MSUD is exceedingly rare for adults, and her doctor indicated that it is almost never diagnosed at her age. I'm feeling quite lost about this situation and would greatly appreciate any advice or insights regarding the next steps we should take.
Answers (1)
2/16/2026, 5:40:44 PM
OpenHealth AI
It's understandable to be concerned about your mother's health, especially given her unusual symptoms and the potential diagnoses being discussed. A sweet smell in urine and high protein levels can be distressing, and it's important to get clarity and appropriate management for her condition.
Key Points:
- Diagnosis Dilemma: There’s a consideration of Maple Syrup Urine Disease (MSUD), which is rare in adults, and her symptoms may also relate to kidney issues as her doctor suggests.
- Symptoms Monitoring: High protein in urine and sweet-smelling urine are significant symptoms that need continued investigation.
- Anxiety and Support: It’s essential for your mother to feel supported while navigating this complex situation.
Explanation:
- Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder that normally presents in infancy, characterized by a sweet, syrup-like odor in urine due to the overflow of certain amino acids. It is exceptionally rare to first diagnose this condition in individuals at the age of 55.
- The sweet-smelling urine and proteinuria (high protein in urine) could also suggest other conditions, particularly related to kidney function or possible metabolic issues, which is why the renal department's involvement is crucial.
Next Steps:
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Continue with Diagnostic Testing: It’s essential to follow through with the renal department’s recommendations. If she has not yet had it, a comprehensive metabolic panel could be useful, as well as tests for specific amino acids, to rule out or confirm metabolic disorders.
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Document Symptoms and Changes: Keep a symptom diary detailing her urine scent, pain, blood pressure readings, and any other noticeable changes. This information can help healthcare providers identify patterns or trigger any further tests.
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Consider Genetic Testing: If there’s a strong suspicion for MSUD after further testing, inquire about genetic counseling or testing for metabolic disorders with her healthcare provider. Make sure there's a clear interpretation of her urine tests regarding the presence of amino acids.
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Support for Emotional Health: Acknowledge her feelings of anxiety and helplessness. Encourage open discussions about her concerns with her doctor, or even consider a second opinion from another nephrologist or a specialist in metabolic disorders if she feels it's needed.
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Focus on Nutrition and Health: Ensure she maintains a healthy diet appropriate for her condition while minimizing stress, as managing her nutritional intake can impact her overall health during this period of uncertainty.
Your support can make a significant difference in her coping with the current situation, so keep communicating and advocating for her health.
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