Metabolism is the process your body uses to get or make 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, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.
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 NCIMD 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 centres and clinics throughout the country and provides specialised treatments for these patients with rare genetic problems.
The NCIMD also plays a major role in the treatment of metabolic disorders for the Irish population. The NCIMD screens for Phenylketonuria, Homocystinuria, Maple Syrup Urine Disease and Galactosaemia and provides a programme for the investigation, counselling and lifelong treatment of patients with metabolic disorders detected through newborn screening, family screening and through diagnostic testing.
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, genetic counselling, physiotherapy, laboratory staff and play specialist staff.