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Date: 5 April 2020
Metabolic disorders include problems with anabolic (manufacture) and catabolic (break down) pathways in the body but generally describe conditions of deficiency or excess. The metabolic systems are essential for providing energy and those tissues requiring the most energy are more likely to be affected; brain, spinal and nerve cells (neurones) and muscle. They are mostly inherited in a recessive way (i.e. siblings may be affected but the next generation is not affected unless relatives marry).
Good examples of this group of disorders are the metabolic myopathies. Myopathy (muscle damage) can present in a number of ways including muscle pain on exercise (exertional myalgia) with or without muscle breakdown and “Coca-Cola” coloured urine (rhabdomyolysis and myoglobinuria). Other patients develop wasting around the shoulder and hip muscles (limb girdle presentation) which result in difficulty getting up from the floor or seat and using the arms above the head. When exercising, the muscle uses sugars initially and with more prolonged exertion metabolism of fat takes over as the main provider of energy. It follows that if there is a problem with sugar metabolism (glycogen storage disorders) that any exertional muscle pain will occur early in exercise or with explosive sports.
The Neurometabolic clinic is coordinated by Dr Nick Davies (Consultant Neurologist), Dr Tarek Hiwot (Consultant in Adult Inherited Metabolic Disorders) with specialist physiotherapy, nurse and dietetic support. Patients may also require Cardiology and Respiratory Consultant input. Patients range from those already diagnosed by Paediatricians with an established treatment plan to others with only suspected metabolic disorders requiring full investigation including blood tests, scans, electrical tests and very occasionally muscle biopsy. A transition clinic (for ages 16-18) is also available at Birmingham Children’s Hospital which is run with Dr Evangeline Wassmer (Consultant Paediatric Neurologist).
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