🍁Maple Syrup Urine Disease🍁

🍁Maple Syrup Urine Disease🍁

Maple syrup urine disease is a genetic condition that causes the body to improperly metabolize certain amino acids, resulting in a sweet smell in the urine of patients. The symptoms of the disease include poor feeding, vomiting, lethargy, abnormal movements, and delayed development. If left untreated, this disorder can lead to seizures, coma, and even death.

Maple syrup urine disease can result from mutations in the BCKDHA, BCKDHB, and DBT genes. These genes provide instructions for making proteins that form a complex needed to break down the amino acids leucine, isoleucine, and valine, found in protein-rich foods like meat, milk, and eggs. It affects about 1 in 185,000 infants worldwide, with a higher incidence in the Old Order Mennonite population (about 1 in 380).

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