Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.
Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as part of a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs.
Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Giselli Scaini practices in Criciuma, Brazil. Scaini is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. They are also highly rated in 11 other conditions, according to our data. Their top areas of expertise are Maple Syrup Urine Disease, Tyrosinemia Type 2, Tyrosinemia Type 3, and Bipolar Disorder.
Caroline Mescka practices in Porto Alegre, Brazil. Mescka is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Maple Syrup Urine Disease, Opisthotonos, Inborn Amino Acid Metabolism Disorder, and Infant Hyperglycemia.
Emilio Streck practices in Criciuma, Brazil. Streck is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 14 other conditions, according to our data. His top areas of expertise are Maple Syrup Urine Disease, Tyrosinemia Type 2, Tyrosinemia Type 3, and Tyrosinemia Type 1.
Published Date: July 01, 2017Published By: National Institutes of Health