Maple Syrup Urine Disease
A rare autosomal recessive error of metabolism, the maple syrup urine disease is characterized by a characteristic maple syrup odour in urine! There is a deficiency of the enzyme branched chain alpha acid dehydrogenase, responsible for the metabolism of branched amino acids. As a result, toxic levels of leucine, isoleucine and valine accumulate in the body and in urine. The baby experiences severe metabolic acidosis, vomiting dehydration and mental retardation. Untreated cases progress to death in a few weeks of life. Treatment involves feeding the baby with synthetic formula which contains limited amounts of the above mentioned amino acids. This provides the amino acids for growth but prevents their accumulation in toxic levels. Image via: https://iconarchive.com/show/3d-food-icons-by-icons-land/MapleSyrup-icon.html