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.
The lysosomal enzyme acid lipase (LAL) - or Wolman Disease and Cholesteryl Ester Storage Disease (CESD) - has the function to release cholesterol from cholesteryl esters and triglycerides; therefore a defect of this enzyme leads to the accumulation of these lipids in several tissues and organs, predominatly in the liver and vessels. Two main clinical phenotypes are caused by an acid lipase deficiency: Wolman disease and Cholesteryl Ester disease. Wolman disease is a rapidly progressive disorder, characterized by severe failure to thrive, diarrhoea, vomiting and hepatosplenomegaly, leading to death at the age of 6-8 months from cachexia. Cholesteryl ester storage disease (CESD) represents the more attenuated phenotype of LAL deficiency with a wide spectrum of clinical presentation. Clinical signs include liver enlargement, short stature, gastrointestinal bleeding and chronic abdominal pain. Some patients live to adulthood with unpredictable course, other die in their juvenile years due to failure of liver function or myocardial infarction.
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.
