Classification, Diagnosis and Management Status of Carbohydrate Metabolic Rare Disorders / 罕见病研究

ABSTRACT

Approximately 30%-40% of rare diseases are related to the endocrine and metabolic system, and abnormal metabolism of carbohydrate accounts for a significant proportion among others. Carbohydrate metabolic rare disorders often develop insidiously. The clinical symptoms of these disorders sometimes overlap with common diseases. Therefore, delayed diagnosis, misdiagnosis, and mismanagement happen often. The diagnosis and treatment of carbohydrate metabolic rare disorders is usually difficult in clinical practice. Efficient and practical screening models, identification of specific clinical features and biochemical changes, and genomic sequencing are critical to improve diagnostic efficiency. Most carbohydrate metabolic rare disorders are still lack in effective and targeted therapies. So, the symptomatic treatment is still main practice. The targeted medications and gene therapies based on precision diagnosis are directions for the diagnosis and management of rare disorders of carbohydrate metabolism in the future. In this paper, we classify the carbohydrate metabolic rare disorders based on their causes. We also discuss the current status and prospective of diagnosis and management of those diseases.