Being happy with a slice of pizza: medical stories worth telling

It is hard to imagine what our life would be like if we could not eat the vast majority of foodstuffs, even if we had rationed products as healthy as vegetables in our daily diet. 

We are what we eat. That is why it is so hard to put oneself in the shoes of patients with Maple Syrup Urine Disease (MSUD). These are people who have the misfortune of having a very limited diet.

MSUD is an inherited genetic disorder. The disease appears because of an error of metabolism, which generates the accumulation of amino acids (leucine, isoleucine and valine) that patients eliminate through body fluids such as urine. The name of this disease, which is classified as rare (1 in every 200,000 births), stems directly from one of its symptoms: the smell of the urine of these patients is similar to maple syrup. Fortunately, the team of Dr. George Mazariegos at Children's Hospital of Pittsburgh, USA, has succeeded in curing the disease through liver transplantation. A treatment that provides patients the enzymes necessary to process Read more