ESPE Abstracts

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disease characterized by disorders of fatty acid, branched-chain amino acid and energy metabolism. It can be manifested as hypoketo hypoglycemia, metabolic acidosis, muscle weakness, cardiomyopathy and so on. In terms of treatment, patients with MADD need to rely on a high-carbohydrate, low-fat and low-protein diet to improve energy metabolism disorders. At present, there are no clinical reports of MAD...

Objective: Growth hormone deficiency (GH) is one of the most common complications in postoperative survivors of craniopharyngioma (CP), which is closely related to short stature. recombinant human growth hormone (rhGH) is often used to correct short stature in survivors after CP in children, but its safety is still controversial on the one hand, and its effect on glucose and lipid metabolism is unclear on the other hand. The purpose of this study is to monitor...

Previous studies have found that the incidence of postoperative metabolic diseases (such as obesity, cardiovascular diseases and diabetes) in patients with craniopharyngioma (CP) is high, which seriously affects the long-term quality of life of patients. At present, few data on postoperative glucose and lipid metabolism in patients with CP, and the results of different studies are heterogeneous. The purpose of this study is to monitor the glucose and lipid metabolism indexes a...

Objective: This study aim ed to report four Chinese patients due to FBN1 mutations including one with geleophysic dysplasia (GD) and three with acromicric dysplasia (AD), and analyze the clinical and genetic features of all Chinese patients.Methods: The clinical features, laboratory tests and gene mutations of four Chinese patients with GD and AD were reported, and literatures were reviewed to analyze the clinic...