Maple Syrup Urine Disease

Maple syrup urine disease is a disorder that is passed down genetically. People with this disease cannot break down some proteins, resulting in urine that smells like maple syrup. This disease is caused by a gene defect, in which the amino acids leucine, isoleucine, and valine cannot be broken down. The affect of not being able to break the amino acids down is a buildup of these chemicals in the blood. If this disease is untreated, it can lead to seizures, comas, and death. Maple syrup is not very common, only affecting about 1 in every 185,000. The genes related to this disease are mutations in the BCKDHA, BCKDHB, DBT, and DLDD genes. These genes provide instructions for making proteins for breaking down the certain amino acids. This disease is AUTOSOMAL RECESSIVE, so people can be a carrier of the disease, but show no symptoms. If not treated, this disease is very deadly, so for a treatment, a special diet is needed to follow. This diet may be a protein free diet, or avoiding eating foods with the amino acids leucine, isoleucine, and valine.