After our first normal and healthy son, our second son, Hootan, was born in Tehran in 1985, at the time of full scale war between Iran and Iraq.

My pregnancy was uneventful and he was born without any problem.

He looked like a healthy and handsome baby boy. But from the moment of birth, the hospital staff could not feed him and he also refused breast feeding.

His pediatrician ordered many lab tests, including PKU, bit measuring of BCAA was not available at that time, so the true diagnosis was not made.

After three days, his feeding became normal, but he was crying endlessly. His pediatrician and we all assumed it was a neonatal colic pain.

At that time , the hospitals were full of wounded war patients, so we rushed him home to protect from exposure to dangerous infections.

A few months later, he caught a flu and went into a seizure followed by severe anorexia and confusion. We Were were totally stunned. He was admitted to the hospital and received adequate fluids (orally and intravenously) and thankfully recovered.

Over the next few months he had a few more hospitalizations with same scenarios. His symptoms became more apparent to us by that time he was 9 months old. His motor skills were delayed. After a lot of stressful times, we finally decided send his blood sample abroad for more analysis. We were shocked at the MSUD diagnosis we received from a French lab.

We were freaking out and stressed out since there was very little known about this disease.

And at that time we could not find any knowledgeable physicians or nutritionists to guide us through this rare disease. I am a nurse and my husband is a surgeon. We searched the available literature and found just a few lines about this disease and its treatment. We were unable to measure amino acid levels except by chromatography every 3-6 months.

Thankfully, he has a mild form.

Based on very little information, we put all our energy on his treatment and diet. We had the special protein formula imported and made his diet restrict of all ordinary proteins. Soon after, there was a sudden jump in his coordination and motor skill levels. He started to walk at 2 years old began elementary school at age 8. He is actually borderline. His memory is perfect but he is weak in math and interpretation of matters. He plays tennis, ping pong, swims & rides bicycle very well within his own abilities.

When he was 22, after a common cold there was a continuous nasal drip that continued for 3 months! After an MRI & CT scan we found out that there was an osseous defect in the base of his skull. He received a seven-hour endoscopic surgery in Tehran. He tolerated anesthesia and the surgery very well without any complication and fully recovered.

He has moved to USA seven years ago with us. We now live in ORlando, Florida. In spite of the problems in the past, he is doing very well. He manages himself very well and follows the restricted diet, even more so during any viral diseases, such as catching cold.

We are all keeping our hopes high for new treatments that can help him to improve his quality of life.

Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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NBS-MSUD Connect: Your One-Stop Shop For MSUD Resources

NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders.

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Cambrooke Therapeutics

Cambrooke Therapeutics continues to expand its line of delicious and nutritious low protein foods to help improve the lives of individuals with Inborn Errors of Metabolism such as MSUD.

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Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

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Emory Metabolic Camp 2018 Announcement

Join us June 18-23, 2018 for the 24th Annual Metabolic Camp at Emory University in Atlanta, GA!

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From The Chairman’s Desk

As I sit here reflecting on how much the care and treatment of MSUD has changed over the years, my mind goes back to 1978 when our son Keith was born.

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MSUD Advocacy Report

Medical Nutrition Equity Act

The Medical Nutrition Equity Act (MNEA) would require all private insurance plans (state regulated or self-insured/self-funded) and federal health programs, including Children’s Health Insurance Program, Tricare, Medicaid, Medicare, and Federal Employee Health Benefit Plans, to provide coverage for formula and low-protein foods for all children and adults with MSUD.

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The MSUD Family Support Group Is Excited To Announce Their Participation In The Million Dollar Bike Ride

The MSUD Family Support Group is excited to announce their participation in The Million Dollar Bike Ride

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19th Biennial MSUD Symposium

I can’t believe that almost two years have passed and it is time for another MSUD Symposium! I am especially excited about this conference because I’ve built in extra time for social interaction.

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A Child's Life

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