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Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy...

Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S) enzyme.

GC Pharma and Clinigen has received Japan manufacturing and marketing approval for Hunterase ICV (intracerebroventricular) Injection 15 mg (idursulfase-beta (recombinant)) as a treatment for mucopolysaccharidosis type II (Hunter syndrome).

Drug development for ultra-rare diseases is challenging because small sample sizes and heterogeneous study populations hamper the ability of randomized, placebo-controlled trials with a single primary endpoint to demonstrate valid treatment effects.

Launched on epgonline.org as the second clinical resource dedicated to lysosomal storage disorders, the Hunter Syndrome Knowledge Centre is now live for healthcare professionals in paedatrics, ENT and genetics. 

Background: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment.

Introduction: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies.

Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities.

In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis.