Title: Academic Days of the National Clinical Center for Children's Neuropsychomotor Recovery “Dr. Nicolae Robănescu”, Bucharest, 14-15 September 2023 - Congress Abstracts
Abstract: Lysosomal diseases are storage disorders caused by cellular dysfunction due to the accumulation of the substrate in the context of lysosomal malfunction.We present two cases of lysosomal diseases from Dr Nicolae Robanescu National Clinical Center for Children's Neurorehabilitation -a 17-year old boy diagnosed with mucopolysaccharidosis type A and an 8-month old boy diagnosed with Krabbe disease.A fast and accurate diagnosis of lysosomal diseases is mandatory, as currently there is treatment for some of these diseases, such as Gaucher, Fabry, Pompe, various types of muccopolysaccharidoses, and others.