Barth syndrome is an x-linked disorder of lipid metabolism presenting as cardiac/skeletal myopathy, neutropenia and growth retardation with a high infant mortality rate. Patients with Barth Syndrome present with frequent cardiac problems and, in two-thirds of patients, neutropenia (reduced white blood cell count leading to susceptibility to infection). When undiagnosed or treated by non-specialists, patients typically experience frequent hospital admissions for a range of diagnostic tests and treatment of severe infections.
Infections will be significantly reduced through protocol-driven prescription of granulocyte colony stimulating factor (G-CSF).
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