The congenital metabolism errors (NDE) are a very large group of low frequency diseases, considered within the set of 'rare or minor diseases'. They are caused by hereditary alternations of DNA, which (due to the generation of abnormal proteins) causes a malfunction of cells and organs.
The Metabolic Unit of the Hospital Sant Joan de Déu has been researching and assisting patients with congenital metabolism errors for more than 30 years. In its web page, in addition to echoing the main related news, it is explained what these diseases consist of and all the process they entail; stories, games and a large section of patient advice are also offered - with a special section dedicated to cooking -.
The treatment of NDEs may involve the use of orphan drugs and special diets that prevent the accumulation of toxic metabolites, partially correcting the alteration of the metabolic pathway. Among these diseases is Lowe Syndrome, Fabry's disease, Galactosemias or Pheniceltonuria (PKU), which you may have heard of on occasion.
I have illustrated this article with the cover of the story 'The story of the lion PIM' since this reading is part of the resource bank that (on the web) children have to 'learn by playing'. They learn to understand each other and understand their illness, to take care of their diet and to discover the prohibited foods. They may even learn to adapt and manifest to their environment that they want to be happy children like everyone else.
Surely one of the most useful sections will be the advice, in which (from the experiences of parents and professionals) have been included useful recommendations that can help in the day-to-day lives of families, at school, in sports or in food.
In 'la cuineta', very tasty recipes adapted for restricted food in proteins, fats or carbohydrates have been collected. It is about offering a space to share and bring new dishes. Why teach and promote essential foods For their normal growth, to appreciate the food differences and to learn the management of the special diet, they will be the essential objectives that will contribute to an improvement in the adhesion of the diet and to a good metabolic control.
I think the work of the Metabolic Unit of the SJD Hospital is very important, in order to support all those families in which the detection of one of these diseases causes a great impact, and not a few doubts. Therefore, the Guide sure is a great help.
