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 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 have a query about your child’s stay in the hospital such as date of admission.
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.
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
- a hospital play specialist
- admin staff
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
At NCIMD, we see a lot of patients with classic metabolic disorders e.g. PKU for which there are well established treatments and best practise guidelines. We also see patients with newly described ultra-rare disorders e.g. LARS, where international collaboration is ongoing and essential to establish treatments.
Here are some of the disorders that we see:
Familial hypercholesterolaemia (FH) is an inherited condition which can lead to extremely high cholesterol levels. Without 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.
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 with around 1 in 19,500 babies born in the Republic of Ireland having Galactosaemia.
Printable Resources
For more information see: www.galactosaemia.org
- 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
Glutaric Aciduria Type 1 (GA1) is a rare life-threatening genetic disorder present from birth. In GA1, the body is unable to break down 3 amino acids 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 thats helps the body get rid of harmful substances.
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 glutaric acid and other harmful substances will increase quickly. Patients will have an individualised emergency plan to use when they are unwell.
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 of potentially life-threatening genetic disorders present from birth.
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 or releasing glycogen when it is needed and this can lead to low blood sugars, called hypoglycaemia.
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 GSD can affect the liver, the muscles or both.
At present, the treatment for most GSD, 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.
Supports
Homocystinuria (HCU) is a rare genetic disorder present from birth. In HCU, the body is unable to break down an amino acid 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 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 B6, 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 the amino acid, leucine, causing a build-up of isovaleric acid, other organic acids and toxic chemicals, including ammonia. The severity of IVA can vary from mild to severe, with some cases presenting in the neonatal stage 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, patients with IVA must adhere to an individualised emergency plan. This plan aims to prevent catabolism, where the body breaks down its own tissues to release energy.
Printable Resources
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.
A disorder caused by mutations in the LARS gene is now referred to as ‘Infantile Liver Failure Syndrome type I’ and was discovered just recently here in Dublin and we coordinate the care for a number of patients with this condition. The LARS gene is responsible for an enzyme in a step in the body’s ability to make protein and this process is faulty in these children. Children with this condition can become very ill very quickly, especially in the first couple of 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. Further patients have also now been identified in America and Europe.
Support
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 eaten into energy for the body. Patients also have problems breaking down fats already stored in the body.
Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat when we don’t eat for a stretch of time – like when we miss a meal or when we sleep. In LCHADD, however, the body cannot break down fat for energy. Instead, it must rely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycaemia and to the build up of harmful substances in the blood which affects the liver and muscles.
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 metabolising 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 plan to use when they are unwell.
Support
Maple Syrup Urine Disease (MSUD) is a life-threatening rare genetic disorder present from birth. In MSUD, the body is unable to break down 3 amino acids 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 plan to use when they are unwell.
MSUD was added to the National Newborn Screening Programme in 1972. Around 1 in 125,000 babies born in the Republic of Ireland has MSUD.
Printable Resources
- MSUD Handbook
- Weaning Your Baby on a MSUD Diet
- MSUD 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 present from birth. 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.
Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat when we don’t eat for a stretch of time – like when we miss a meal or when we sleep. In MCADD, however, the body cannot break down fat for energy. Instead, it must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycaemia and to the build up of harmful substances in the blood, which causes liver and muscle problems.
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 eat carbohydrate foods and drinks more frequently. Patients will be provided with an individualised emergency plan to use when they are unwell.
Many countries screen newborns for this condition. In Ireland, screening for MCADD was added to the National Newborn Bloodspot Screening Programme on December 3rd, 2018.
Support
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. There is a wide range of symptoms and severity, which may vary from one individual to another. The diagnosis of mitochondrial disorders can be difficult and often requires tissue biopsies to aid diagnosis. Unfortunately there is no cure but many symptoms can be effectively treated.
Supports
- A useful source for further information on mitochondrial disorders is the United Mitochondrial Disease foundation,
- www.umdf.org.
- https://www.thelilyfoundation.org.uk/
- https://www.thefreyafoundation.co.uk/about-pdh
- https://www.mepan.org/what-is-mepan
- https://www.mitocon.it/
Phenylketonuria (PKU) is a rare genetic disorder that is present from birth. In PKU, the body is unable to break down an amino acid called Phenylalanine which then builds up in the blood and in the brain and can cause problems when untreated.
The treatment for PKU is effective. It involves 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 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 Screening Programme in 1966. 1 in 4,500 babies born in the Republic of Ireland has PKU.
Support
The PKU Association of Ireland is a network of families and individuals who live with PKU. They are dedicated to providing support, information and social contact for both families and patients of all ages. They organise meetings and events where parents, adults and children with PKU can meet. For more information, please email pkuireland@gmail.com or see www.pku.ie
NSPKU.org is a UK based support organisation for families affected by PKU.
Useful Links
For recipes and articles on living with a low protein diet, please click on the links below:
Propionic Acidemia (PA) is a rare genetic disorder present from birth. In PA, the body is unable to break down 4 amino acids (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 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 substances. Antibiotics taken by mouth may also be recommended to lower the amount of propionic acid made in the intestine by naturally occuring 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 methionine, threonine, isoleucine and valine and other acids will increase quickly. Patients will have an individualised emergency plan to use when they are unwell.
Support
Printable Resources
- PA Dietary Handbook
- Weaning Your Child on a PA Diet
- PA Standard ED 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.
Tyrosinaemia Type 1 is a rare life-threatening genetic disorder present from birth. In Tyrosinaemia Type 1, the body is unable to break down an amino acid called tyrosine. This causes a build up of tyrosine and another chemical called succinylacetone in the liver, kidneys, eyes and brain and can cause 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.
Support
The Tyrosinemia Society is an international fundraising organisation based in the United States helping those affected by Tyrosinemia
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.
Urea Cycle Disorders are rare life-threatening genetic disorders present from birth. In Urea Cycle Disorders, the body is unable to break down the waste that is made from breaking down protein. Everyone needs protein. When a person eats foods that contain protein, the body breaks it down into amino acids and uses what it needs. It changes the rest into ammonia, which must be removed from the body. Normally, the liver changes ammonia into urea, which is then removed from the body in urine. In Urea Cycle Disorders, the liver is missing an enzyme to change ammonia into urea. As a result, ammonia, a highly toxic substance, builds up in the blood 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 plan to use when they are unwell
Printable Resources
- Urea Cycle Disorder Handbook
- Weaning your baby on a UCD Diet
- 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 present from birth. 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.
Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat when we don’t eat for a stretch of time – like when we miss a meal or when we sleep. In VLCADD, however, the body cannot break down fat for energy. Instead, it must rely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycaemia and to the build up of harmful substances in the blood which affects the liver and muscles.
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 metabolising 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 plan to use when they are unwell.
Support
Printable Resources
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
-
Consultant in Metabolic Diseases
-
Consultant in Metabolic Diseases
-
Consultant in Metabolics
-
Consultant in Metabolics
-
Consultant Paediatrician, Special Interest in Metabolic Disease.
-
Consultant in Metabolic Diseases
-
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.
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 to the NCIMD typically come from the National Newborn Bloodspot Screening Programme, and from tertiary and quaternary sources.
New referrals are accepted within the age-attendance policy of CHI, i.e. up to the eve of the person’s 16th birthday.
The NCIMD is recognised by the European Academy of Paediatrics (EAP) to provide training for medical professionals in paediatric inherited metabolic diseases.