Metabolic Encephalopathy

Abstract

Inherited metabolic encephalopathy refers to a group of diseases that cause the body’s biochemical and metabolic disorders due to congenital metabolic defects, resulting in the accumulation of intermediate or bypass metabolites, or the lack of terminal metabolites, thereby causing symptoms and signs of the central nervous system. Although the incidence of a single disease of genetic metabolic encephalopathy is low, the overall incidence is not low, about 1/(2500-5000) [1]. Inherited metabolic encephalopathy often begins in infancy and childhood, and a few are delayed to adulthood. Inherited metabolic encephalopathy covers a wide variety of clinical manifestations, and is currently less than 1/2 of the diseases that can be diagnosed. The diagnosis of genetic metabolic encephalopathy relies on genetic testing, laboratory tests, clinical manifestations, and imaging examinations. MRI is the first and most important imaging method for genetic metabolic encephalopathy. MRI can help narrow the scope of the differential diagnosis of the disease, especially in the early diagnosis of important advantages. Although the imaging manifestations of each genetic metabolic encephalopathy have their own characteristics, most of the diseases show the common feature of symmetrical lesion distribution. Due to limited space, the following discussion will only cover some of the most common genetic metabolic encephalopathies.