Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today we focus on Maple Syrup Urine Disease (MSUD)—a rare but serious inherited metabolic disorder that affects the body’s ability to break down certain amino acids.
Under the expert leadership of Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, he has helped numerous families understand, diagnose, and manage MSUD and other metabolic disorders. His expertise in early detection, newborn screening, and dietary interventions has been instrumental in preventing complications and improving the quality of life for children with MSUD.
What is Maple Syrup Urine Disease (MSUD)?
Maple Syrup Urine Disease (MSUD) is a genetic metabolic disorder caused by mutations in the BCKDHA, BCKDHB, or DBT genes, which affect the function of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC). This enzyme complex is responsible for breaking down branched-chain amino acids (BCAAs)—leucine, isoleucine, and valine—found in protein-rich foods.
When BCAAs are not broken down properly, they accumulate in the blood and brain, leading to:
✔ Toxic buildup of amino acids, causing severe neurological damage
✔ Sweet-smelling urine, similar to maple syrup
✔ Feeding difficulties, vomiting, and irritability in newborns
✔ Lethargy and seizures
✔ Coma or life-threatening metabolic crisis if untreated
MSUD requires immediate medical attention, as delays in treatment can result in irreversible brain damage or even death. Newborn screening is crucial in detecting MSUD early and starting dietary management before symptoms appear.
Dr. Roshan Daniel’s Experience with Maple Syrup Urine Disease (MSUD)
Throughout his career, Dr. Roshan Daniel has worked extensively with inherited metabolic disorders, including MSUD. In his experience, most MSUD cases are detected through newborn screening, where a heel-prick test reveals elevated branched-chain amino acid levels.
✅ Early diagnosis through newborn screening has saved lives, as timely treatment prevents neurological complications and metabolic crises.
✅ Dietary interventions, including a low-protein diet and specialized medical formulas, have allowed children with MSUD to grow and develop normally.
✅ Cases presenting later, with seizures or metabolic crisis, have required aggressive medical interventions, including hospitalization and metabolic therapy.
💡 Cost of Testing (as of February 2025):
✔ Newborn screening (heel-prick test): ₹5,000
✔ Genetic testing for MSUD confirmation: ₹20,000
✔ Prenatal genetic testing (amniocentesis) for future pregnancies: ₹35,000
Advances in MSUD Treatment & Management
Although MSUD is a lifelong condition, modern treatments have greatly improved patient outcomes:
🔹 Strict Dietary Control – MSUD patients must completely avoid high-protein foods and consume a specialized metabolic diet.
🔹 Medical Formula (BCAA-Free Formula) – Provides essential nutrients without leucine, isoleucine, or valine.
🔹 Liver Transplantation – A potential curative option for severe cases, allowing the body to properly metabolize BCAAs.
🔹 Emergency Metabolic Management – If a patient enters metabolic crisis, immediate hospitalization and IV therapy are required to remove toxic amino acids from the blood.
With proper management, individuals with MSUD can lead near-normal lives, avoiding serious complications like intellectual disability and coma.
Frequently Asked Questions (FAQs) on Maple Syrup Urine Disease
💡 What causes Maple Syrup Urine Disease (MSUD)?
MSUD is caused by mutations in the genes responsible for breaking down branched-chain amino acids (BCAAs). When these amino acids accumulate in the body, they become toxic to the brain and nervous system, leading to severe neurological symptoms.
💡 Is MSUD inherited?
Yes. MSUD follows an autosomal recessive inheritance pattern, meaning both parents must be carriers of the mutated gene for their child to inherit the disease. If both parents are carriers, there is a 25% chance of MSUD occurring in each pregnancy.
💡 Can Maple Syrup Urine Disease be diagnosed before birth?
Yes. If a couple has a family history of MSUD, they can undergo:
✔ Carrier screening before pregnancy
✔ Prenatal genetic testing (CVS or amniocentesis) during pregnancy
✔ Newborn screening (heel-prick test) immediately after birth
💡 Can individuals with MSUD lead normal lives?
With strict dietary control and metabolic management, children with MSUD can:
✔ Achieve normal cognitive development
✔ Attend school and participate in daily activities
✔ Live an active and fulfilling life
💡 Dr. Roshan Daniel has managed cases where children diagnosed early through newborn screening have completely avoided neurological damage and are thriving on proper dietary therapy.
💡 What happens if MSUD is not treated?
If left untreated, MSUD can lead to:
✔ Severe intellectual disability
✔ Seizures and metabolic crises
✔ Coma and even death
💡 The key to preventing these complications is early newborn screening and strict metabolic management.
💡 Can MSUD occur again in a future pregnancy?
Yes. If both parents are carriers, every pregnancy has a 25% chance of being affected.
✔ Amniocentesis (cost: ₹35,000) can detect MSUD in the unborn baby
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can ensure only healthy embryos are implanted
💡 Dr. Roshan Daniel has guided multiple families through genetic testing and prenatal screening, helping them make informed decisions about future pregnancies.
Genetic Testing and Counselling for Maple Syrup Urine Disease
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we provide comprehensive genetic care for families affected by MSUD and other metabolic disorders. Our services include:
✔ Newborn screening for early MSUD detection
✔ Genetic testing for MSUD confirmation and risk assessment
✔ Carrier screening for couples planning pregnancy
✔ Personalized dietary and medical management plans
✔ Online genetic consultations for remote patients
If you have concerns about MSUD, newborn screening, or a family history of metabolic disorders, early genetic testing and expert consultation can prevent serious complications.
Join Us in Spreading Awareness!
Maple Syrup Urine Disease is a life-threatening disorder, but early diagnosis and proper dietary management can prevent brain damage and metabolic crises. Raising awareness about newborn screening, genetic testing, and metabolic therapy can save lives and improve long-term outcomes.
📢 No disease is too rare to care. Join us in spreading awareness and helping families access life-saving treatment for MSUD.
For expert guidance on genetic testing, counselling, or MSUD management, reach out to Dr. Roshan Daniel at KIMSHealth today!💙