Nine newly discovered inherited metabolic diseases will be presented at the Congress, including one related to the biosynthesis of lipoic acid – essential for the maintenance of life – which will be presented by the working group of professionals from the two Barcelona hospitals. Novel treatment strategies will also be presented, such as enzyme replacement therapies to ensure correct metabolic function, chaperone therapy to promote correct protein function, and liver stem cell transplantation.
The term “inherited metabolic diseases” covers a wide range of more than 700 hereditary diseases that together make up one of the most prevalent diseases of early childhood, affecting one in 1500 newborns. These diseases – also known as “inborn errors of metabolism” – can affect adults as well as children. They are caused by a hereditary alteration in the DNA that leads to the abnormal functioning of cells and organs and can cause severe mental and neurological problems. Treatment varies according to the type of metabolic disorder, but in general, it involves the use of medication, while in some cases, the child must follow a strict diet in order to avoid the accumulation of toxic substances and prevent severe mental retardation and other serious health problems.
Preventive measures are of the utmost importance, and early diagnosis is crucial to determine the optimal treatment. In Catalunya, newborns are routinely screened for 22 pathologies that are currently treatable.