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Date: 25 September 2020
Inherited metabolic diseases
Inherited metabolic diseases (IMDs) are a group of over 750 conditions caused by deficient activity in a single enzyme). These conditions are often life-limiting, always multi-systemic and are often progressive. An IMD service provides care and treatment for patients and families affected by these conditions. The vast majority of IMDs present in childhood with an incidence of approximately 1; 1000 live births. Early diagnosis coupled with the development of new treatments and improved management strategies in childhood have resulted in increasing numbers of adult patients. The IMD service at UHB provides care for over 500 patients with an IMD diagnosis.
The IMD Service was officially launched in December 2008 and consists of a multidisciplinary team lead by consultants in IMD, metabolic dieticians and nurse specialists. The IMD service is fully supported by other specialities including heart, liver, kidney, neurology, genetics and rehabilitation services. The adult metabolic service is also closely linked to Birmingham Children’s Hospital (BCH) metabolic unit.
Referrals are received from the Midlands area for adult patients with inherited metabolic conditions, including those with:
- Biochemical defects in carbohydrate metabolism
- Disorders of amino acid and fat metabolism
- Lysosomal storage disorders
- Mitochondrial diseases
- Organic acidemias
- Urea cycle disorders
- Fatty acid oxidation disorders
- Disorders of lipid metabolism
- Monday clinics for Transition and General Metabolic patients
- Tuesday morning clinics for lysosomal storage disorders
- Thursday clinics for General Metabolic patients
- All day specialist PKU clinics
- Research clinics
- Nurse-led clinics
- Dietetic-led clinics
- Psychology clinics
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