ESPE Abstracts

Background: X-linked hypophosphatemic rickets (XLH) is a relatively rare chronic bone metabolism disorder, caused by mutations in the X chromosome's PHEX gene. Fibroblast growth factor 23 (FGF23) levels rise, and bone metabolism is affected. The monoclonal antibody burosumab represents a novel therapeutic strategy for managing XLH, targeting the pathophysiology of the disorder. We present our experience of two XLH-diagnosed pediatric patients treated with...

Background: GM1 gangliosidosis falls in the category of endogenous metabolic disorders and is characterized by β-galactosidase deficiency. It is inherited in an autosomal recessive manner and is characterized by neurodevelopmental deficits, generalized hypotonia, dystonia and the presence of convulsions and also skeletal malformations such as a prominent forehead, kyphoscoliosis, brachydactyly and joint flexions. The association of the disease with growth...