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Maple Syrup Urine Disease

Maple Syrup Urine Disease Causes

Maple syrup urine disease is caused by a deficiency of the metabolic enzyme branched-chain a-keto acid dehydrogenase (BCKDH), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products in the blood and urine.

Maple Syrup Urine Disease Definition

Maple syrup urine disease also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. This is one type of organic acidemia. Maple syrup urine disease is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins.

Maple Syrup Urine Disease Diagnosis

Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death can occur during these episodes. With strict dietary treatment, children have grown as healthy adulthood.

Maple Syrup Urine Disease Symptoms and Signs

From early infancy, symptoms of the condition include poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, ketoacidosis, and neurological decline.

Maple Syrup Urine Disease Treatment

Long term treatment requires a special diet. The diet has a synthetic infant formula with low levels of the amino acids leucine, isoleucine, and valine. Person with this condition must remain on this diet permanently. It is more important to always stick to this diet to prevent neurological damage. This needs frequent blood tests and close supervision by a registered dietitian and a physician, as well as parental cooperation.

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