Metabolic medicine
Available locations:
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 typically need to stay healthy. The symptoms vary from one condition to another. There are over 1400 known metabolic disorders, which are all caused by genetic changes that affects normal metabolism.
Contact us
Call this line if you need to speak with the metabolic outpatient team about your child.
General enquiries:
Tel: (01) 878 4317 (outpatient administration)
Email: metabolic@childrenshealthireland.ie
Metabolic Dietitians:
Phone: 01-878 4317 and press 2 for Dietitians. Note this is a voicemail service. Please leave a detailed message.
Urgent dietary queries should be directed through the main hospital reception number (01 878 4200) and ask for the Metabolic Dietitian on Bleep 834. This service is available 9am-4pm (Monday – Friday).
Email: metabolic.dietitians@childrenshealthireland.ie
Metabolic CNS:
Phone: 01 878 4409 or phone 01 878 4317 and press 3 for Nurses.
Queries can also be directed through the main hospital reception number (01 878 4200) and ask for the Metabolic CNS on bleep 828.
Medical Social Work
Tel: (01) 878 4212
Email: medicalsocialwork@childrenshealthireland.ie
Our services
The NCIMD investigates and treats patients with inherited metabolic disorders (IMDs), often from birth onwards, and provides care to patients from all 26 counties of the Republic of Ireland.
The care of patients with IMDs is complex and relies on a multidisciplinary team working in close collaboration with patients and their families. The metabolic team MDT includes:
- consultants
- non-consultant hospital doctors (NCHDs)
- nurses
- dietitians
- healthcare assistants
- psychologists
- medical social workers
- physiotherapist
- occupational therapist
- a hospital play specialist
- admin staff
The NCIMD provides training to undergraduates and postgraduates across disciplines. It is recognised by the European Academy of Paediatrics (EAP) to provide training for medical professionals in paediatric inherited metabolic diseases.
Stay up to date with the latest news, announcements and service updates for children and families attending NCIMD.
The outpatient clinics take place in the dedicated metabolic outpatients in CHI at Temple Street. The service also provides outreach clinics in Cork, Limerick and Ballinasloe several times per year.
The staff of the NCIMD also provide a national consult service via telephone to support families and local hospital teams in the care of patients with IMDs at home or as close to home as possible.
Conditions we treat
Here are some of the disorders we see – click for more information, resources, and links to supports.
DISCLAIMER: Where links are provided to external supports, CHI are not affiliated with these organisations or responsible for the content of their websites.
Familial hypercholesterolaemia (FH) is an inherited condition which can lead to extremely high cholesterol levels. It is one of the most common genetic conditions in the world, affecting thousands of people in Ireland alone. Without early treatment, FH can lead to heart disease at a very young age. But once it has been diagnosed, it can be treated with diet, lifestyle and medications.
Printable Resources
External Supports
Classical Galactosaemia is a rare genetic disorder present from birth and can be life-threatening in the newborn period. In galactosaemia, the body is unable to breakdown a sugar called galactose, which builds up in the body and can cause problems.
Galactose is part of lactose, the main sugar in all animal milks (including breast milk, most infant formulas, cow’s milk, goat’s and sheep’s milk). At present, the treatment for Galactosaemia is a lactose and galactose free diet for life. Galactose and lactose are found in milk and all foods that contain milk. Obvious sources include milk, cheese, yoghurts and butter. However, it is also found in less obvious food sources such as sauces, biscuits, processed meats and chocolate where milk or lactose is added during the manufacturing.
Galactosaemia was added to the National Newborn Screening Programme in 1972. Galactosaemia is more common in Ireland than in other countries.
Printable Resources
- Galactosaemia Handbook
- Weaning your baby on a Galactosaemia diet
- Reading Food Labels for Galactosaemia
- Lunchboxes for Galactosaemia
Shopping Guides
- Lactose and Galactose Free Alternatives to Dairy
- Lactose & Galactose Free Soups
- Dairy Free Pizza Options
- Dairy Free Crisps and Tortilla Chips
- Dairy Free Sweet Options
- Dairy Free Chocolate
- Lactose & Galactose Free Cereal Bars
Seasonal
External Supports
Glutaric Aciduria Type 1 (GA1) is a rare life-threatening genetic disorder of protein metabolism. In GA1, the body is unable to break down three amino acids (building blocks of protein) called lysine, hydroxylysine and tryptophan, which then build up in the body and can cause problems.
At present, the treatment for GA1 involves a protein restricted diet for life and taking regular dietary supplements that contain amino acids, vitamins and minerals. Supplementation of L-Carnitine may be recommended. This is a natural substance that helps the body get rid of the harmful substances that build up in GA1.
During times of illness, the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with GA1 as levels of harmful substances will increase quickly. Patients will have an individualised emergency diet plan to use when they are unwell.
GA1 was added to the National Newborn Bloodspot Screening Programme in 2018.
Printable Resources
- GA 1 Handbook
- Weaning your baby on a GA1 Diet
- GA1 Pharmacy letter
- Reading Food Labels for Protein
- Low Protein Food List
- Standard Letter for GA1
Storybook
George and Gina have GA1 Storybook - a colourful and informative storybook about George and Gina who have GA1 has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
Glycogen storage disorders (GSD) are a group genetic disorders where there is a difference in how the body stores the substance glycogen.
Glucose, a type of sugar, is the main source of energy for the body. It is stored in the form of glycogen in both the liver and muscles and later released with the help of enzymes when we don’t eat for a stretch of time - like when we miss a meal or when we sleep. Persons with GSD have a defect in one of the enzymes responsible for making glycogen or releasing glycogen when it is needed.
There are at least ten distinct types of GSD. They are classified by a number and by the name of the defective enzyme. Depending on the type, some GSDs can affect the liver, the muscles or both. For the GSDs which affect the liver, the main concern in childhood is hypoglycaemia (low blood sugar). Some GSDs are more severe than others in how long they are able to manage fasting.
At present, the treatment for most liver GSDs is to have frequent carbohydrate meals and snacks to avoid low blood sugars. Tube feeding may be recommended in some types of GSD in early infancy and childhood. Patients may be recommended to take uncooked cornflour or another long acting starch called Glycosade to allow them to fast for longer. Each patient will have an individualised plan that is developed by their doctors and dietitians to prevent hypoglycaemia when well.
During times of illness, the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with GSD as glucose may be used up more quickly. Patients will have an individualised emergency plan to use when they are unwell. Tube feeding or an intravenous infusion of glucose may be required when unwell to prevent hypoglycaemia.
GSD III is most common type of GSD seen in Ireland but symptoms vary widely in severity within this type.
Printable Resources
GSD1 Standard Emergency Letter
GSD 3 Standard Emergency Letter
GSD 6 and GSD 9 Standard Emergency Letter
External Supports
Classical Homocystinuria (HCU) is a rare genetic disorder of protein metabolism. In HCU, the body is unable to break down an amino acid (a building block of protein) called methionine. This causes a build up of methionine and another amino acid called homocysteine in the eyes, brain, bones and blood vessels and can cause problems when untreated.
There are two different forms of HCU.
One form can be treated with Vitamin B6 (pyridoxine) supplements and this type is called ‘B6 responsive HCU’.
The other form of HCU cannot be treated with B6 supplements alone and this type is called ‘non-B6 responsive HCU’. At present, the treatment for ‘non-B6 responsive HCU’ is a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals. Supplementation of vitamin B6, vitamin B12, Folate, L-Cystine and Betaine may be recommended. The aim is to keep blood methionine and homocysteine levels within a specific target range.
Printable Resources
- HCU Dietary Handbook
- Weaning Your Child on a HCU Diet
- HCU Pharmacy Letter
- Reading Food Labels for Protein
- Low Protein Food Guide
Storybook
Harry and Heidi have HCU Storybook - a colourful and informative storybook about Harry and Heidi who have HCU has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
Isovaleric Acidaemia (IVA) is a rare, inherited disorder of protein metabolism caused by a deficiency in the enzyme isovaleryl-CoA dehydrogenase. In IVA, the body cannot break down an amino acid (a building block of protein) called leucine, causing a build-up of toxic chemicals, including ammonia. The severity of IVA can vary from mild to severe, with some cases presenting in the first few weeks of life and others later in childhood.
The current treatment for IVA is a protein restricted diet for life and taking a regular dietary supplement called synthetic protein which contains all amino acids except leucine, in addition to vitamins and minerals. Carnitine and glycine supplementation are also used in the management of IVA to help excrete toxic substances.
During times of illness, the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with IVA as levels of harmful substances will increase quickly. Patients will have an individualised emergency diet plan to use when they are unwell.
Printable Resources
- Weaning your Baby on a Diet for IVA
- Reading Food Labels for Protein
- Low Protein Guide
- IVA Standard Emergency Letter
Storybook
Izzy and Ian have IVA Storybook - a colourful and informative storybook about Izzy and Ian who have IVA has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
This condition caused by changes in the LARS1 gene is now referred to as ‘Infantile Liver Failure Syndrome type 1’, but is commonly called LARS or LARS deficiency. It was first described here in Ireland. The LARS1 gene is responsible for making an enzyme related to the body’s ability to make protein, and this process is faulty in the condition.
Children with this condition can become very ill very quickly, especially in the first few years of life. Some (but not all) may suffer from acute liver failure and seizures, particularly when they have a fever or viral illness. It is being studied further to try to understand the best ways of preventing severe illness and managing the complications. Patients will have an individualised emergency diet plan to use when they are unwell.
Printable Resources
LCHADD is a rare life-threatening genetic disorder present from birth. It stands for “long chain 3-hydroxyacyl-CoA dehydrogenase deficiency”. In LCHADD, the body is unable to break down long chain fats from food to be used to make energy for the body. Patients also have problems breaking down fats already stored in the body.
At present, the treatment for LCHADD is a fat restricted diet for life and taking regular dietary supplements which contain medium chain fats, vitamins, minerals and essential fats. People with LCHADD need to eat carbohydrate foods frequently to avoid breaking down fat stores. Tube feeding may be recommended in early infancy and childhood. Patients may also be recommended to take uncooked cornflour or another long acting starch called Glycosade to allow them to fast for longer. Each patient will have an individualised plan that is developed by the Doctors and Dietitians when well.
During times of illness and fasting, the body will break down its own fat stores to provide energy (catabolism). This can be dangerous for people with LCHADD as levels of certain fats and other harmful substances will increase quickly. Patients will have an individualised emergency diet plan to use when they are unwell.
Printable Resources
Support
Lysosomal storage disorders (LSDs) are a group of inherited disorders characterised by progressive build up (‘storage’) of material within the lysosome. This in turn causes progressive health problems.
The lysosome has the job of recycling complex molecules in our cells by breaking them down into their parts, by lysosomal enzymes, step by step. One of these many steps may be blocked due to a genetic deficiency of an enzyme and this results in a lysosomal storage disorder. There are over 50 different LSDs and each affects the body slightly differently. For example, in some disorders the brain is the main organ involved while in others the brain is not affected at all. However, many LSDs affect many different parts of the body.
The most common LSDs seen in Ireland are Fabry disease, Hurler syndrome (mucopolysaccharidosis type IH) and I-cell disease (mucolipidosis type II). Some of these conditions have available treatments such as enzyme replacement therapy (ERT) or bone marrow transplant. However the treatment of many other LSDs is supportive care only.
External Supports
- Fabry Disease - Kidney Care UK
- Niemann-Pick Disease - Niemann-Pick UK
- Gaucher Disease - International Gaucher Alliance
- Krabbe Disease - Krabbe UK
- Mucopolysaccharidoses (MPS) – Irish MPS Society
Maple Syrup Urine Disease (MSUD) is a life-threatening rare genetic disorder of protein metabolism. In MSUD, the body is unable to break down three amino acids (building blocks of protein) called leucine, isoleucine and valine, which build up in the body and cause problems.
At present, the treatment for MSUD is a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals. The aim is to keep the blood levels of leucine, isoleucine and valine within a specific target range.
During times of illness the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with MSUD as levels of leucine, isoleucine and valine will increase quickly. Patients will have an individualised emergency diet plan to use when they are unwell.
MSUD was added to the National Newborn Bloodspot Screening Programme in 1972.
Printable Resources
- MSUD Handbook
- Weaning Your Baby on a MSUD Diet
- MSUD Standard Emergency Letter
- Reading Food Labels for Protein
- Low Protein Guide
Storybook
Mia and Matt have MSUD Storybook - a colourful and informative storybook about Mia and Matt who have MSUD has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
MCADD is a rare life-threatening genetic disorder of fat metabolism. It stands for “medium chain acyl-CoA dehydrogenase deficiency”. In MCADD, the body is unable to break down medium chain fats which come from food and also from fats already stored in the body. Most fats in our diets are long chain fats and can be broken down without any difficulty.
At present, the mainstay of treatment for MCADD is to have frequent carbohydrate meals and snacks throughout the day. Patients will be told how long it is safe to fast for and this will increase as the patient gets older.
During times of illness, the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with MCADD as levels of certain fats and other harmful substances will increase quickly and blood sugars will drop. When unwell, it is necessary for patients to have carbohydrate foods and drinks more frequently. Patients will be provided with an emergency diet plan to use when they are unwell.
MCADD was added to the National Newborn Bloodspot Screening Programme in 2018.
Printable Resources
Emergency regimens:
- Emergency Regimen for formula feeding infants less than 1 year
- Emergency Regimen for breastfeeding infants less than 1 year
- Emergency Regimen for 1-2 year olds
- Emergency Regimen for 2-10 year olds
- Emergency Regimen for 10-16 year olds
- Emergency Regimen for adults
External Supports
Mitochondrial disorders include a large group of complex disorders that may affect children at any age. Mitochondria are in almost all cells and generate energy for the body to use. Mitochondrial disorders occur when the mitochondria of the cell fail to produce enough energy for the cell or organ to function properly. They can affect one part of the body or many parts, including the brain, muscles, heart, liver, kidneys, eyes, and ears. There can be a wide range of symptoms and severity, which may vary from one individual to another.
The diagnosis of mitochondrial disorders can be difficult. Unfortunately there are currently no cures available for any of the mitochondrial conditions. Some have specific treatments available, but many others are managed by treating the symptoms experienced by that particular person.
External Supports
Methylmalonic Acidaemia (MMA) is a rare life-threatening genetic disorder of protein metabolism. In MMA, the body is unable to break down four amino acids (building blocks of protein) called methionine, threonine, isoleucine and valine, and certain fatty acids. This causes a build up of methylmalonic acid and other harmful substances in the body which can cause problems.
There are a number of different forms of MMA. Some forms can be treated with Vitamin B12 injections and these types are called ‘B12 responsive MMA’.
Other forms of MMA cannot be treated with B12 injections and these types are called ‘non-B12 responsive MMA’. At present, the treatment for ‘non-B12 responsive MMA’ is a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals. Supplementation of L-Carnitine may be recommended. This is a natural substance that helps the body to get rid of harmful toxins.
During times of illness the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with MMA as levels toxic metabolites can increase quickly. Patients will have an individualised emergency diet plan to use when they are unwell.
Printable Resources
- MMA Dietary Handbook
- Weaning Your Baby on a MMA PA Diet
- Methylmalonic Acidaemia Standard Emergency Letter
- Reading Food Labels for Protein
- Low Protein Food Guide
Storybook
Maeve and Max have MMA Storybook - a colourful and informative storybook about Maeve and Max who have MMA has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
Phenylketonuria (PKU) is a rare genetic disorder of protein metabolism. In PKU, the body is unable to break down an amino acid (a building block of protein) called Phenylalanine which then builds up in the blood and in the brain and can cause problems when untreated.
The treatment for PKU involves a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals. Some people with PKU will respond to a medicine called sapropterin which can help to lower the blood phenylalanine levels. They may or may not also require some changes to their diet. The aim for all patients is to keep the blood Phenylalanine level within a specific target range.
Ireland was the first country in the world to begin a national screening programme for PKU. It was added to the National Newborn Bloodspot Screening Programme in 1966. 1 in 4,500 babies born in the Republic of Ireland has PKU.
Printable Resources
- PKU Dietary Handbook
- Weaning your baby on a PKU Diet
- PKU Pharmacy Letter
- Reading Food Labels for PKU
- Suitable soft drinks for PKU and TYR
- Low Protein Food Guide
- Sweetener Information for PKU and TYR
- Useful Phrases for Travelling with PKU
Storybook
Penny and Paul have PKU Storybook - a colourful and informative storybook about Penny and Paul who have PKU has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
External Supports
Propionic Acidaemia (PA) is a rare genetic disorder present from birth. In PA, the body is unable to break down four amino acids (building blocks of protein) called methionine, threonine, isoleucine and valine, and certain fatty acids. This causes a build up of propionic acid and other harmful substances in the body and can cause problems.
At present, the mainstay of treatment for PA is a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals. Supplementation of L-Carnitine may be recommended. This is a natural substance that helps the body to get rid of harmful toxins. Antibiotics taken by mouth may also be recommended to lower the amount of propionic acid made in the gut by naturally occurring bacteria.
During times of illness the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with PA as levels of toxins will increase quickly. Patients will have an individualised emergency diet plan to use when they are unwell.
Printable Resources
- PA Dietary Handbook
- Weaning Your Child on a PA Diet
- PA Standard Emergency Letter
- Reading Food Labels for Protein
- Low Protein Food Guide
Storybook
Penny and Paul have PA Storybook - a colourful and informative storybook about Penny and Paul who have PA has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
Support
Tyrosinaemia Type 1 (TYR) is a rare life-threatening genetic disorder of protein metabolism. In TYR, the body is unable to break down an amino acid (a building block of protein) called tyrosine. This causes a build up of tyrosine and another chemical called succinylacetone in the liver, kidneys, eyes and brain, which can cause health problems.
At present, the treatment for Tyrosinaemia Type 1 consists of a medication called nitisinone (NTBC) together with a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals.
Printable Resources
- TYR Handbook
- Weaning your Child on a TYR Diet
- Suitable Soft drinks for PKU and TYR
- Reading Food Labels for TYR
- Low Protein Food Guide
- Sweetener Information for PKU and TYR
Storybook
Tess and Tom have TYR Storybook-a colourful and informative storybook about Tess and Tom who have TYR has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
External Supports
Urea Cycle Disorders are rare life-threatening genetic disorders of protein metabolism. In Urea Cycle Disorders, the body is unable to break down the waste that is made from breaking down protein. The body breaks protein down into amino acids and uses what it needs. It changes the rest into ammonia, which must be removed from the body. In Urea Cycle Disorders, the liver is missing an enzyme to breakdown ammonia. As a result, ammonia, a highly toxic substance, builds up in the brain and can cause problems.
Some children have a mild form of Urea Cycle Disorder, some have a severe form. Some are not diagnosed until adulthood.
At present, the treatment for Urea Cycle Disorders is a protein restricted diet for life. Special amino acids, vitamins and minerals may be recommended. Some children will need to take medications such as sodium benzoate or sodium phenylbutyrate to help take extra ammonia out of the body.
During times of illness, the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with Urea Cycle Disorders as levels of ammonia and other harmful substances will increase quickly. Patients will have an individualised emergency diet plan to use when they are unwell
Printable Resources
- Urea Cycle Disorder Handbook
- Urea Cycle Disorder Standard Emergency Letter
- Weaning your baby on a UCD Diet
- Reading Food Labels for Protein
- Low Protein Food Guide
Storybook
Una and Ultan have UCD Storybook - a colourful and informative storybook about Una and Ultan who have UCD has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.
VLCADD is a rare life-threatening genetic disorder of fat metabolism. It stands for “very long chain acyl-CoA dehydrogenase deficiency”. In VLCADD, the body is unable to break down long chain fats from food eaten into energy for the body. Patients also have problems breaking down fats already stored in the body.
At present, the main treatment for VLCADD is a fat restricted diet for life and taking regular dietary supplements which contain medium chain fats, vitamins, minerals and essential fats. People with VLCADD need to eat carbohydrate foods frequently to avoid breaking down fat stores. Tube feeding may be recommended in early infancy and childhood. Patients may also be recommended to take uncooked cornflour or another long acting starch called Glycosade to allow them to fast for longer. Each patient will have an individualised plan that is developed by the doctors and dietitians when well.
During times of illness and fasting, the body will break down its own fat stores to provide energy (catabolism). This can be dangerous for people with VLCADD as levels of certain fats and other harmful substances will increase quickly. Patients will have an individualised emergency diet plan to use when they are unwell.
Printable Resources
External Support
Wards
St. Brigid’s Ward is a high dependency ward with nursing staff trained in the care of children with inherited metabolic disorders. Children may be admitted for specialised testing or investigations for a suspected inherited metabolic disorder, or for treatment of their IMD.
Meet the team
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Consultant in Metabolic Diseases
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Consultant in Metabolic Diseases
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Consultant in Metabolics
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Consultant in Metabolics
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Consultant Paediatrician, Special Interest in Metabolic Disease.
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Consultant in Metabolic Diseases
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Consultant in Metabolic Diseases
Page contents
On this page you will find information about:
Our MDT
We have a team of dietitians with specialist training in the dietary management of inherited metabolic disorders. There are hundreds of metabolic disorders that vary widely in severity and rarity. In many of these disorders diet is the primary – and may be the only – treatment.
The team includes a dietetic manager, two clinical specialist dietitians and a number of senior metabolic dietitians. Our aim is to educate patients, parents, carers and other healthcare professionals in the dietary management of these disorders.
We provide phone support for patients in regards to their blood results and dietary changes that may be required. We also run phone clinics and co-manage the weekly PKU clinic with the metabolic CNSs.
There are three metabolic clinical nurse specialists and one lysosomal storage disorder (LSD) clinical nurse specialist. The CNS works with the multidisciplinary team in providing supports to families of newly diagnosed metabolic patients in addition to established families. Services provided include:
- Education for parents, patients and carers on all aspects of management of metabolic conditions. This education role is also extended to PHNs, student nurses and other healthcare professionals as necessary.
- Support for parents and families around new diagnosis. Ongoing support for issues related to specific conditions and coping with the same.
- Liaison role or link between the in-patient and out-patient services.
- Co-manage the PKU clinic with our dietetic colleagues on a weekly basis.
As part of the service provided in the National Centre for Inherited Metabolic Disorders, children and parents can access a psychologist. The psychologists are available to meet with families who are newly diagnosed with a metabolic condition and are then available for help when needed afterwards.
Examples of the type of assistance offered:
- Developmental assessments where there are concerns regarding development. Referral for further assessment can be made if necessary.
- Advice and support on managing aspects of a child’s behaviour that are causing concern from time to time, such as dietary adherence.
- Cognitive assessments when there is a concern about a child’s progress in school. The psychologist can also liaise with school staff and forward reports if required.
- Individual support for older children and adolescents in relation to living with their particular conditions, managing their diet and achieving independence is provided. Group sessions are run from time to time.
The metabolic medical social workers provide practical and emotional supports to families of children with inherited metabolic disorders. Examples of this include:
- Advice regarding financial supports such as the domiciliary care allowance or carer’s allowance
- Emotional support following a new diagnosis
- Bereavement support
- Assistance with applications relevant to the child’s medical condition
- Child safeguarding
Useful Information
Resources for Healthcare Professionals
This section provides healthcare professionals with access to key clinical resources developed by the Metabolic Medicine team at Children's Health Ireland. Includes standard emergency letters for a range of inherited metabolic disorders and various nursing protocols.
Resources for Parents
This section provides information and support for parents and families of children attending the Metabolic Medicine service at Children's Health Ireland. Here you will find helpful educational videos, practical guidance, and links to trusted resources designed to support you in understanding and managing your child's metabolic condition.
For healthcare professionals
Referrals
Referrals to the National Centre for Inherited Metabolic Disorders from secondary care or tertiary care paediatricians are accepted; referrals from GPs are generally not accepted (unless the patient has a known metabolic disorder and is not currently linked in with services). We also receive referrals from the National Newborn Bloodspot Screening Programme.
New referrals are accepted within the age-attendance policy of CHI, i.e. up to the eve of the person’s 16th birthday.
Urgent referrals should be discussed with the metabolic consultant on service by the referring consultant, via the CHI at Temple Street switchboard (01 878 4200).
Triage of new referrals is undertaken by the metabolic consultants and multidisciplinary team. All referrals are triaged according to the information provided.
Please note the following: The terms “genetic testing” and “metabolic testing” may refer to any number of different tests that are done for different indications. Referrals must specify which tests have been completed and provide a copy of the relevant results.