The National Centre for Inherited Metabolic Disorders (NCIMD), also known as the Metabolic Unit, is a referral centre for any child diagnosed with or suspected of having a metabolic genetic disorder. The centre investigates suspected cases of metabolic disorders referred from hospitals, community health centres and clinics throughout the country. It provides specialised treatments for these patients with metabolic disorders.
The NCIMD also plays a major role in the diagnosis and treatment of metabolic disorders for the Irish population. The Newborn Bloodspot Screening Programme screens for Phenylketonuria, Homocystinuria, Maple Syrup Urine Disease and Galactosaemia.
Metabolism is the process your body uses to make and utilise energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, which are your body’s fuel.
A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy.
The management of metabolic disorders is complex and demands dedicated input from the multidisciplinary team led by a Metabolic Consultant. A holistic and family centred approach is used by our team, with input from medical, nursing, dietetic, psychology, social work, physiotherapy, laboratory staff and play specialist.
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The Irish Society of Inherited Metabolic Disorders (ISIMD) Metabolic Study Day 2017 is taking place on Friday, 21 April, 10am – 4:30pm more