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Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder. If untreated, MSUD causes mental retardation, physical disabilities and death. First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births.

MSUD derives its name from the sweet, burnt sugar, or maple syrup smell of the urine. The disorder affects the way the body metabolizes (processes) certain components of protein, the three branched-chain amino acids—leucine, isoleucine, and valine. These amino acids accumulate in the blood and become toxic to the brain.


MSUD Family Support Group

Parents seeking information and support prompted the first MSUD Symposium for families and professionals in 1982. It was here that families discussed the need for an organized support group.

In 1983 the first issue of the MSUD Newsletter was distributed throughout the U.S. and Canada. Now mailed around the globe, the MSUD Newsletter provides up-to-date information on the treatment of the disorder, reports on the latest research, diet information, family news and related topics. Treatment has improved, and the future continues to brighten for those with MSUD.

The MSUD Family Support Group, a non-profit organization, now includes families and professionals worldwide. It is a growing organization and continues to develop resources to meet its goals of support, education and advocacy.

The MSUD Family Support Group is dedicated to:

  • Providing opportunities for support and personal contact for those with MSUD and their families.
  • Distributing information and raising public awareness of MSUD.
  • Strengthening the liaison between families and professionals.
  • Encouraging newborn screening programs and research for MSUD.

NBS-MSUD Connect: Advancing MSUD Research And More

NBSCONNECT.ORG

Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

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Indigo Charlie Mays - Variant MSUD Age 4

Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA.

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Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

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20th Annual White Horse Beach Charity Golf Tournament

On July 29, 2017 Charlie O’Rouke and his committee held the 20th Annual White Horse Beach Charity Golf Tournament.

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In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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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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