09.07.2025
1st ASMD Workshop: Focus on Neurological and Psychiatric Involvement
Experts shared clinical and research insights into neurological and psychiatric symptoms in ASMD, ranging from infantile type A to late-onset adult cases.
Our teacher, our mentor, our doctoral advisor: Professor Michael Beck, whom we still called our "chief" with great pleasure, has gone. He leaves behind a big blank.
Experts shared clinical and research insights into neurological and psychiatric symptoms in ASMD, ranging from infantile type A to late-onset adult cases.
Clinical research for lysosomal diseases is fortunately receiving more and more attention. We would like to help you stay up to date and inform you accordingly about studies currently taking place.
An overview of the current therapy concepts with gene therapy, haematopoietic stem cell transplantation (bone marrow transplantation), enzyme replacement therapy, substrate reduction therapy and chaperone therapy is scientifically presented in the article "Precision Medicine for Lysosomal Disorders" (Jul 26 2020). Furthermore, we have tried to illustrate the topic of therapy concepts for lysosomal diseases in a comic.
Mucolipidosis type II (ML II) and mucolipidosis type III (ML III) are caused by a defect of the GlcNAc-1-phosphotransferase complex, which is composed of three subunits, alpha, beta und gamma. Mutations of the gene GNPTAB encoding the alpha/beta subunits result in Mucolipidosis II (ML II, also called I-cell disease) or the clinically milder condition mucolipidosis (ML III) alpha/beta. ML III gamma (or ML IIIC) arises from mutations of the gene GNPTG encoding the gamma-subunit. The GlcNAc-1-phosphotransferase complex is responsible for the formation of the mannose-6-phosphate recognition marker required for correct targeting of lysosomal hydrolases to the lysosomes. A defect of this complex leads to missorting of multiple lysosomal enzymes ending in the accumulation of different non-degraded macromolecultes in several tissues and organs. In ML II (I-cell disease) clinical signs are present already in newborns, these include dysmorphic features with striking gingival hypertrophy, developmental disturbance, skeletal abnormalities, hepatosplenomgaly and cardiomyopathy; the patients often die in early childhood. The mucolipidosis III (ML III alpha/beta and ML III gamma) are slowly progressive disorders that mainly affect the skeletal, joint and connective tissue, but spare the central nervous system. The life expectany is hardly reduced.
Lysosomal Storage Disorders (LSDs) are a group of more than 50 rare hereditary metabolic diseases. The diseases are characterized by an abnormal accumulation of various toxic substances in the body cells as a result of enzyme defects.
Lysosomal storage diseases affect the lysosome, a structure in the cells that breaks down substances such as proteins, carbohydrates and old cell parts so that the body can recycle them. As a result, various parts of the body may be affected, including the skeleton, brain, skin, heart and central nervous system. New lysosomal storage diseases continue to be identified.
