Metabolic dysregulation in monogenic disorders and cancer — finding method in madness

摘要: Cancer is a prime example of disease process in which carcinogenic and metabolic changes are intertwined to promote cell survival growth. One approach unravel this complex relationship by studying rare, monogenic disorders caused mutations genes encoding enzymes or regulators. There hundreds these diseases, most manifest childhood collectively termed 'inborn errors metabolism' (IEMs). Several IEMs demonstrate the consequences chronic, systemic loss particular activity that can result malignancy. In Opinion article, we present conceptual categorization associated with cancer discuss how assessment rare diseases might inform us about biological foundations common types opportunities for diagnosis therapy.