Maple Syrup Urine Disease

What is maple syrup urine disease?

A rare inherited metabolic disease that causes abnormalities in the metabolism of certain amino acids, such as leucine, isoleucine and valine. This disease is due to deficiency of chain-branched chain enzyme alpha-keto acid dehydrogenase complex (BCKDC). The name of the disease marks the sweet-smelling urine of patients like "maple syrup".


Gambar 1. Enzyme defects in maple syrup urine disease

How rare is the maple syrup urine disease?

The prevalence of MSUD disease is 1 / 185.000 infants. Both male and female infants have the same risk of developing the disease. This rare disease is inherited autosomal recessively.

What are the symptoms of maple syrup urine disease?

The disease is classified by signs and symptoms. The classic type is the most commonly followed by the very typical signs and symptoms that arise soon after birth. The variant form of MSUD becomes apparent in infancy or childhood and is usually milder, but there is still a delay in growth and development.

Signs and symptoms experienced by patients with MSUD are lethargy, developmental delays, vomiting, and decreased intake. The accumulation of these three amino acids can cause encephalopathy. Without treatment, MSUD can lead to fatal conditions such as seizures, coma and death.


How to treat maple syrup urine disease?

Early diagnosis and diet intervention can prevent complications that can be caused by amino acid buildup and allow patients to have normal growth, development and intellectual abilities.

In acute conditions, patients should be given protein-free fluids and sufficient glucose to ensure adequate calories to prevent catabolism. In addition, in cases of encephalopathy, exchange transfusion, hemodialysis, or hemofiltration is needed to reduce the buildup of amino acids.

Long-term therapy includes special formula that is free of isoleucine, leucine, and valine, in combination with supplementation of valine and isoleucine.


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