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National Centre for Inherited Metabolic Disorders

Creator:

National Centre for Inherited Metabolic Disorders

Subject Keywords: Screening, Inherited Disorder, Metabolic Disorders, Disability
Set: Chronic Conditions
Rare Disease
Rare Diseases
Conditions
Catalogue: Data
Primary Data Sources
Type: Database
Region: Republic of Ireland
Description:

The National Centre for Inherited Metabolic Disorders is located at the Children's University Hospital, Temple St. It is the tertiary care referral centre for the investigation and treatment of individuals suspected of having a metabolic genetic disease in Ireland linked to the Newborn Screening Programme.

The National Centre plays a major role in preventing and treating disability for the Irish population. The neonatal screening for Phenylketonuria commenced in Ireland in 1966. The National Centre now screens for other conditions, such as Homocystinuria, Maple Syrup Urine Disease, Galactosaemia and provides a programme for the investigation, counselling and lifelong treatment for patients, children and adults with metabolic disorders, detected by Newborn Screening and family screening.

The Unit investigates suspected cases of metabolic disorders referred from hospitals throughout the country and provides specialised treatments for these patients with rare genetic problems. The management of metabolic disorders is complex and demands a dedicated input from the multidisciplinary team lead by a Metabolic Consultant. A holistic and family centred approach is used, composed of input from medical, nursing, dietetic, psychology, social workers, laboratory staff and play specialist.

Date:

01/01/2012

Rights: © National Centre for Inherited Metabolic Disorders
Suggested citation:

National Centre for Inherited Metabolic Disorders. (2012) National Centre for Inherited Metabolic Disorders [Online]. Available from: http://www.thehealthwell.info/node/113176 [Accessed: 26th May 2017].

  

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