Metabolic disease as a cause of chronic liver disease in children

Summary 

Metabolic disease is an important cause of chronic liver disease, and recognizing this association is important for guiding prognostication, genetic counselling and therapy. The most important part of the diagnostic process is often the act of considering metabolic liver disease as a possible cause of the symptoms. Chronic liver disease has a number of possible phenotypes, and a range of metabolic diseases can account for these. A logical approach is first to define the phenotype and then to consider pointers that might suggest metabolic disease. These could include family history, the relationship of symptoms to feeding or fasting and possible dietary precipitants. Specific diagnosis will usually depend on selecting laboratory tests in a logical manner, having defined the phenotype and considered the potential metabolic causes. It is important that algorithms for the investigation of common phenotypes are developed locally in collaboration between clinicians and laboratory scientists.

Keywords: Metabolic liver disease, Neonatal liver disease, Chronic liver disease, Clinical phenotypes, Organomegaly, Glycogen storage diseases