Treatment for MSUD is based on a special low protein diet. Causes of a metabolic crisis can include an infection such as a stomach upset or vomiting illness. Some babies with MSUD might not develop symptoms of a metabolic crisis until later on in the first year of life or later in childhood. A metabolic crisis is a period of time when the effects of the condition make your child seriously ill. When babies with MSUD become ill, they might show symptoms of metabolic crisis. If levels are very high, your baby might need intensive care and dialysis to bring down the levels as quickly as possible. This is due to high levels of the harmful substances in the body. Left untreated, babies with MSUD can deteriorate, have fits and slip into a coma which can be life threatening. These symptoms can be controlled with treatment. breathing difficulties and fast breathing.Without early diagnosis and treatment they can develop serious illness and damage to the brain.īabies with MSUD are at risk of developing the following symptoms: This can leave a sweet smell in the urine and sweat.īabies with MSUD benefit significantly from early treatment and can live healthy and active lives. This causes harmful substances to build up in their blood and urine. Special chemicals found naturally in our body, called enzymes, then make changes to the amino acids so our body can use them.īabies with MSUD have problems breaking down three amino acids called leucine, isoleucine and valine because an enzyme is missing. When we eat, our body breaks down protein in food into smaller parts called amino acids. Maple syrup urine disease (MSUD) is a rare but treatable inherited disorder that prevents the normal breakdown of protein.īabies with MSUD inherit two faulty copies of the gene for MSUD, one from each parent.
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