The National Centre for Inherited Metabolic Disorders (NCIMD) is the Irish referral centre for children with metabolic genetic disorders. We diagnose and care for families affected by metabolic disorders using a holistic and family-centred approach. We have a multidisciplinary team at NCIMD with extensive experience in the acute and long-term management of metabolic disorders.
Metabolism is the process by which your body makes and utilises energy. Chemicals in the body break down proteins, fats and carbohydrates from foods into sugars and acids, which are the 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 and the symptoms vary from one condition to another. There are over 500 known metabolic disorders.
Homocystinuria (HCU) is a rare genetic disorder present from birth. In HCU, the body is unable to break down an amino acid called methionine. more