Enzymes are crucial molecules in the human body, acting as catalysts to help reactions and assist in break downs throughout certain cells and saliva. But when someone has a Lysosomal Storage Disorder (LSD), their enzymes fail to function properly and they need to receive enzyme replacement therapy (ERT), which is administered through an IV. PHS nurses come to the patient’s home to provide infusions of medication prescribed to address their disorder, allowing life to go uninterrupted.
Fabry disease – an inherited disorder that causes a buildup of fatty material in the autonomic nervous system, eyes, kidneys, and cardiovascular system.
Pompe disease – an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells.
Mucopolysaccharidosis (MPS) – a group of metabolic disorders caused by the defective activity of lysosomal enzymes needed to break down molecules. Some types of MPS we see at PHS include:
Gaucher’s disease (the most prevalent LSD) – an inherited disorder that is the result of a buildup of fatty substances in certain organs, and the enzyme’s inability to break down these substances.