What is Maple Syrup Urine Disease?

A baby from Birmingham who could have died from a rare metabolic disease has been saved by a pioneering UK screening project.

Five-month-old Habul Khatoom was found to have Maple Syrup Urine Disease (MSUD) after a blood test at Birmingham Children's Hospital six days after she was born.

What is MSUD?

MSUD is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. It makes people's urine with the disorder smell like maple syrup.

What are the symptoms of MSUD?

Sypmtons are usually evident within the first week of life:

• Poor appetite

• Irritability

• Urine that smells like maple syrup

• Loss of sucking reflex

• High-pitched cry

Treatments for MSUD?

Without diagnosis and treatment, symptoms can progress rapidly to seizures, coma and death. Treatment must therefore be started as soon as possible. Treatment involves a complex approach to maintain metabolic control. A special, carefully controlled diet is the focus of daily treatment. The diet centers around "medical food" which provides nutrients and all the amino acids expect leucine, isoleucine and valine. These three amino acids are added to the diet with strictly limited amounts of food to provide the protein necessary for normal growth and development without exceeding the level of tolerance. This requires careful monitoring of protein intake and close medical supervision for life.

Tests are available to monitor the levels of amino acids.

A liver transplant is an optional treatment.

For more information, visit the MSUD Support website.