Marble Syrup Urine Disease

It is caused by a defect in 1 of 3 genes.

Marble syrup urine disease.

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 inherited metabolic disorder. Maple syrup urine disease affects an estimated 1 in 185 000 infants worldwide. 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.

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks amino acids properly. Amino acids are what remain after your body digests. The urine of affected infants has a distinctive. 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.

It is also characterized by poor feeding vomiting lack of energy lethargy abnormal movements and delayed development. 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. The disease prevents your body from breaking down certain amino acids. Maple syrup urine disease msud is a rare but serious inherited condition.

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks amino acids properly. 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. Maple syrup urine disease msud is inherited which means it is passed down through families. People with this condition cannot break down the amino acids leucine isoleucine and valine.

Maple syrup urine disease msud is an autosomal recessive metabolic disorder affecting branched chain amino acids it is one type of organic acidemia. Beginning in early infancy this condition is characterized by poor feeding vomiting lack of energy lethargy seizures and developmental delay. The result of this metabolic failure is that all three. This leads to a buildup of these chemicals in the blood.

Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration in untreated infants. Having such defective genes may result in either non production or mal functioning of the related enzymes. The condition gets its name from the distinctive sweet odor of affected infants urine particularly prior to diagnosis and during times of acute illness.