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Metabolic Diseases

There are an estimated 400 million people around the world living with a rare disease of which 80% are genetic in origin. This is an immense challenge that can seem insurmountable, but at Takeda we meet it head on by committing ourselves fully to the fight against these challenging conditions.

Rare metabolic diseases can have symptoms that vary widely and progress very differently from person to person, which means that people affected by these diseases are frequently misdiagnosed.

We have a strong legacy in developing therapies for lysosomal storage disorders (LSDs), with a portfolio that includes commercial products, late-stage investigational therapies, and pipeline candidates, as well as a robust R&D program.

We empower global education and awareness of medical and patient communities, and partner with medical and research organizations—continuously working to reduce the amount of time between the onset of symptoms and diagnosis, and accelerate the development of innovative new treatments.

Metabolic diseases in our focus:

Fabry Disease

Fabry disease is a lysosomal storage disorder (LSD) that interferes with the body's ability to break down a specific fatty substance (globotriaosylceramide or Gb3). It affects an estimated 8,000 to 10,000 people worldwide, including both males and females.

Hunter Syndrome

Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAGs. Hunter syndrome is one of several lysosomal storage diseases.

Type 1 Gaucher Disease

Type 1 Gaucher disease is a rare, inherited metabolic condition from the lysosomal storage disorders (LSDs) group where the accumulating substrate is called glycosylceramide. It affects approximately 1 in 100,000 people in the general population, and 1 in 855 people in the Ashkenazi Jewish community. Patients with type 1 Gaucher disease may experience varying symptoms and degrees of disease severity, making it difficult to diagnose.


Global Genes Rare Disease Impact Report, https://globalgenes.org/rare-disease-facts/ Accessed January 24, 2022.

GuggenbuhlP, GrosboisB, ChalèsG. Gaucher disease. Joint Bone Spine. 2008;75(2):116-124.