EC Paediatrics

Hunter disease, also known as mucopolysaccharidosis type 2 (MPS 2), is a lysosomal storage disorders (LSD) caused by a deficiency of iduronate-2-sulfatase. It is a rare x-linked disorder.

The patient will appear with Hurler-like phenotype with coarse face, hepatosplenomegaly, cardiovascular disorders, dysostosis multiplex, dwarfism, deafness, but no corneal clouding like in Hurler disorder.

These patients can be treated with enzyme replace therapy (ERT), Elaprase, 0.5 mg/kg IV once a week.

Genetic counselling and prenatal diagnosis should be offered for the couple because the risk of recurrence is 50% in the next pregnancy.

Keywords: Hunter; Diagnosis; Enzyme Replace Therapy

1. Safary A., et al. “Enzyme replace combination therapy: effective for mucopolysaccharidoses”. Expert Opinion on Biological Therapy 21 (2021): 1181-1197.
2. Molly S., et al. “Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)”. Expert Opinion on Orphan Drugs 4 (2017): 295-307.
3. Martin R., et al. “Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)”. Pediatrics 2 (2008): e377-e386.