ESPE Abstracts

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...