Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.

Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation.

Chemerin concentrations in infants born small for gestational age: correlations with triglycerides and parameters related to glucose homeostasis.

Infants born small for gestational age (SGA) are known to have increased risk of developing several pathologies, including the metabolic syndrome, when they grow up. It has been described that both the growth pattern of these children as well as the risk of their presenting future metabolic disorders can be influenced by the expression of adipokines. Among them, chemerin has demonstrated to be implicated in lipid and glucose metabolism, presenting higher circulating concentration in diabetic and obese subjects.