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Signs & symptoms
Increase your knowledge by exploring the signs & symptoms that should trigger suspicion of Hunter syndrome (MPS II).
James was diagnosed with Hunter syndrome before the age of 4 years.1 He presented with multiple signs and symptoms prior to diagnosis, many of which were initially overlooked as common childhood complaints.2
0–6 months
- Colds & ear infections
- Inguinal hernia
6–12 months
- Repeated infections
- Distended abdomen
12–18 months
- T-tubes
- Adenoidectomy / adenotonsillectomy
What is Hunter syndrome (MPS II)?
Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is one of a group of rare disorders known as the mucopolysaccharidoses.3
It is a rare, X-linked genetic disorder almost exclusively affecting males, with an incidence of 1 in 162,000 live male births.4,5
Hunter syndrome causes a deficiency or absence of a lysosomal enzyme, which interferes with the body’s ability to break down glycosaminoglycans (GAGs). This leads to the accumulation of GAGs, which causes organ damage.6-8
Patients usually appear normal at birth. Depending on the severity of the disease manifestation, initial signs and symptoms present between the ages of 18 months and 4 years and life expectancy varies from <20 years to 50–60 years.4
Knowing which symptoms to look out for is critical for early diagnosis.2
Related video
Awareness & diagnosis of Hunter syndrome (MPS II)
Professor Barbara Burton explores why this condition can be difficult to recognize and discusses the importance of identifying MPS II as early as possible.
