Marble Syrup Urine Disease

It means the body cannot process certain amino acids the building blocks of protein causing a harmful build up of substances in the blood and urine.

Marble syrup urine disease. The disorder occurs much more frequently in the old order mennonite population with an estimated incidence of about 1 in 380 newborns. Beginning in early infancy this condition is characterized by poor feeding vomiting lack of energy lethargy seizures and developmental delay. Maple syrup urine disease msud is an autosomal recessive metabolic disorder affecting branched chain amino acids it is one type of organic acidemia. Maple syrup urine disease msud is a genetic disorder and is caused by changes or mutations in some genes that signal the body to produce certain enzymes necessary for digestion and metabolism.

The urine of affected infants has a distinctive. Maple syrup urine disease msud is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched chain amino acids leucine isoleucine and valine. People with this condition cannot break down the amino acids leucine isoleucine and valine. The disease prevents your body from breaking down certain amino acids.

It is caused by a defect in 1 of 3 genes. Maple syrup urine disease msud is a rare inherited metabolic disorder. Having such defective genes may result in either non production or mal functioning of the related enzymes. This leads to a buildup of these chemicals in the blood.

The result of this metabolic failure is that all three. Maple syrup urine disease msud is inherited which means it is passed down through families. The condition gets its name from the distinctive sweet odor of affected infants urine. Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks amino acids properly.

Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration in untreated infants. Maple syrup urine disease msud is a rare but serious inherited condition. Maple syrup urine disease affects an estimated 1 in 185 000 infants worldwide. It is also characterized by poor feeding vomiting lack of energy lethargy abnormal movements and delayed development.

If both gene changes have been found in your child dna testing can be done during future pregnancies. Maple syrup urine disease msud is a rare genetic disorder characterized by deficiency of an enzyme complex branched chain alpha keto acid dehydrogenase that is required to break down metabolize the three branched chain amino acids bcaas leucine isoleucine and valine in the body. Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks amino acids properly.