Lysosomal Storage Disorders

The Willink Metabolic Unit is an internationally renowned centre for the diagnosis and treatment of lysosomal storage disorders (LSD) and both the laboratory and clinical services are commissioned nationally. Our international reputation attracts patients from overseas as well as all parts of the UK and the laboratory receives samples for testing for lysosomal storage disorders from across the world.

Clinics for the full range of lysosomal storage disorders are held daily within the Willink Metabolic Unit. Patients are seen by one of four Consultant Paediatricians: Dr Alex Broomfield, Dr Beth Jameson, Dr Simon Jones and Dr Bernd Schwahn.

An MPS I post-haemopoietic stem cell transplant clinic is held once every three months. This is a multidisciplinary clinic which is attended by Dr Alex Broomfield and Dr Simon Jones, Consultant Paediatricians in Inherited Metabolic Disease, Professor Rob Wynn, Consultant Paediatric Haematologist, a Consultant Paediatric Spinal Surgeon, Consultant Orthopaedic Surgeon, Consultant Paediatric Endocrinologist as well as the Clinical Nurse Specialist for MPS I, Jean Mercer, and Specialist Physiotherapist, Pauline Hensman.

The LSD service in Manchester has close links with other paediatric specialities in the Children’s Hospital such as paediatric cardiology, paediatric respiratory medicine and paediatric ENT.

Specialist care for other LSD groups is coordinated by the clinical nurse specialists within the department.

The Willink Metabolic Unit has extensive experience in the delivery and management of enzyme replacement therapy for lysosomal storage disorders. Newly diagnosed patients are infused and monitored in the Royal Manchester Children’s Hospital by a team of specialist ERT nurses before being either transitioned to their local hospital or to homecare. Licensed indications for ERT include Fabry Disease, Gaucher Disease, Pompe Disease, MPS I, MPS II, MPSIV and MPSVI.

In-patient facilities are provided for LSD patients within the Royal Manchester Children’s Hospital either in the Elective Treatment Centre or, for longer admissions, on Ward 85. The Elective Treatment Centre has facilities for both short stay and day case patients and is where LSD patients receive their enzyme replacement therapy.