University Hospital Mainz
Department for Congenital Metabolic Disorders (501581)
Specialized in: congenital metabolic disorders
About the department
The Department for Congenital Metabolic Disorders at the University Hospital Mainz offers the full range of diagnostics, treatment and research of congenital lysosomal storage diseases, as well as disorders of intermediary metabolism. The department specializes in various forms of rare congenital metabolic disorders, for example, Fabry, Gaucher, Pompe diseases, mucopolysaccharidosis, etc. The medical facility ranks among the leading centers of this kind in Germany. The Chief Physician of the department is Prof. Dr. med. Julia Hennermann.
The department offers advanced expertise in the treatment of lysosomal storage diseases. Thanks to the active research activities of the department, three new drugs for the treatment of mucopolysaccharidosis were introduced into therapeutic practice, as well as one drug for the treatment of Pompe disease. It is worth noting that the department is part of the multidisciplinary Center for Pediatric and Adolescent Medicine. This is particularly important for patients with comorbidities, as they can receive a comprehensive, timely diagnostics and treatment here.
The service range of the department includes the diagnostics and treatment of the following diseases:
- Lysosomal storage diseases
- Various forms of mucopolysaccharidosis
- Gaucher disease
- Pompe disease
- Niemann-Pick disease
- Fabry disease
- Wolman disease / cholesterol accumulation disease
- Gangliosidosis GM1, GM2
- And other storage diseases
- Disorders of intermediary metabolism
- Aminoacidopathy (leucinosis (maple syrup disease, MSUD) tyrosinemia)
- Nonketotic hyperglycinemia
- Organic aciduria
- Urea cycle disorders (UCDs)
- Fatty acid oxidation disorders
- Disorders of the carnitine cycle
- Pyridoxine (vitamin B6)-dependent epilepsy
- Congenital hyperlipidemias
- Disorders of fructose metabolism
- Smith-Lemli-Opitz syndrome
- And other diseases
- And other diseases and metabolic disorders
Photo of the doctor: (c) Universitätsmedizin der Johannes Gutenberg-Universität Mainz
Department for Congenital Metabolic Disorders.
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