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Cori Disease Another name for GSD III in honour of the 1947 Nobel laureates Carl Cori and Gerty Cori Cornflour Cornstarch A source of slow release energy used to treat Glycogen storage diseases The intestines convert it into glucose and pass it directly into the bloodstream Debranching Enzyme A chemical made by the body that helps to breakdown glycogen into glucose sugar Forbes Disease Another name for GSD III in honour of American clinician Gilbert Burnett Forbes Glucose A simple sugar and the human body s key source of energy Glycogen The main storage form of glucose sugar in the body GSD IIIa affects both the liver and muscles GSD IIIb affects only the liver Hypoglycaemia often refered to as a hypo An abnormally low level of blood sugar Early warning signs are hunger trembling and sweating If severe there may be confusion and difficulty concentrating In very severe cases the person experiencing hypoglycaemia may lose consciousness Hepatomegaly An enlargement of the liver caused in GSD III by excessive amounts of stored glycogen Ketones Ketone bodies are molecules produced by the liver from fatty acids during periods of carbohydrate restriction The body can produce energy from ketones instead of glucose Ketosis A metabolic state where most of the body s energy supply comes from ketone bodies in the blood Significant keytosis often accompanies hypoglycaemia in GSD III patients Acknowledgements This leaflet was produced by the AGSD UK GSD III support team who are grateful for the considerable input from Elaine Salmons Senior Specialist Nurse Birmingham Children s Hospital Further reading AGSD UK literature available online or in print Please contact the coordinator or office for details of our growing number of publications Genetic Alliance www GeneticAlliance org uk Produce a number of useful patient leaflets including Health Insurance Life Insurance Genetics GSDNet GSD III Cori Disease Also known as Glycogen Storage Disease Type 3 Cori Disease Forbes Disease An online forum where questions can be answered by people from all over the world relating to GSD III and many other GSD issues Find the link on the AGSD UK website under Communications GOV UK www gov uk browse disabilities Advice about government services for disabled people Includes carers your rights benefits and the Equality Act Citizens Advice Bureau www citizensadvice org uk For benefits information and advice Use this link or contact your local bureau to arrange an appointment AGSD UK Support GSD III Coordinator email type3 agsd org uk Patients and families often find help from talking with others who have lived through the same experiences The AGSD UK can put you in touch with other patients families or carers AGSD UK Conference We hold an annual conference where families can meet to share experiences and talk to UK and international GSD III expert healthcare professionals and researchers AGSD UK office address Old Hambledon Racecourse Centre Sheardley Lane Droxford Hampshire SO32 3QY 0300 123 2790 UK National rates on mobiles 44 0 1489 877 991 International email info agsd org uk August 2014 GSD III Glossary Association for Glycogen Storage Disease UK Registered charity in England number 1132271 Association for Glycogen Storage Disease UK Ltd Company registered in England number 06981121 Registered office Crowe Clark Whitehill LLP Black Country House Rounds Green Road Oldbury West Midlands B69 2DG 0300 123 2790
GSD III GSD 3 Before reading too much about GSD III please be assured that with good dietary management people can lead a relatively normal life can have unaffected children and should live to old age Symptoms Initial symptoms can vary common childhood symptoms are A swollen abdomen tummy due to an enlarged liver A history of poor growth or short stature Frequent feeding always hungry Episodes of low blood sugars hypoglycaemia on fasting Excessive sweating particularly in the morning Those affected by GSD III may find their symptoms become easier to manage as they become adults We generally need less energy as we get older because we are not growing Potential complications in later life Progressive muscle weakness GSD IIIa Thickening of the heart muscles GSD IIIa Cirrhosis Scarring and or adenomas on the liver GSD III is caused by a defect in the debranching enzyme The defective enzyme prevents glucose from being properly extracted and so glycogen continues to build up in the body This accounts for the enlarged liver and swollen abdomen and produces the symptoms of low blood sugar www agsd org uk Treatment Management of GSD III is aimed at avoiding hypoglycaemia and maximising the child s growth potential With frequent feeds many of the potential side effects of GSD III can be avoided Each hospital has its own system in relation to emergencies and you will be told who to contact and where to take your child if such a situation should arise Children with GSD III cannot go without food for more than a few hours and are otherwise at risk of dangerously low blood sugars Regular feeds or meals throughout the day and overnight feeds are necessary Parents will quickly learn to assess their child and make decisions on the use of an emergency plan This is not always easy and your specialist team will support you in this decision making process After the child is over one year old a slow release carbohydrate can be used such as uncooked cornstarch cornflour or a modified cornstartch e g Glycosade divided into a few doses during the day to maintain a steady blood glucose level Glucogel can be used when your child shows signs of severe hypoglycaemia such as not responding or fitting as it is instant sugar that is given and absorbed in the mouth This should be given in an emergency whilst waiting for an ambulance To ensure the child receives a constant supply of energy tube feeding is usually required overnight This is because our bodies still need energy while we re asleep and it is easier to use a tube than to be waking up during the night every few hours to have something to eat It means the child can have the energy they need and get continuous sleep A Glucagon injection is often given for diabetes but should NOT be given when the patient is hypoglycaemic becase it stimulates glycogen release GSD children have problems releasing glycogen stores so it will be ineffective A nasogastric tube will be inserted and parents are helped to manage the feeds When the person with GSD III is older a gastrostomy may be required With both of these tubes your child is still able to eat and drink They are used to enable your child to have a regular energy supply and are both reversible so that if your child s fasting tolerance increases they can be removed A specialist dietician will give you a regular feeding regime a plan for each day that must be followed Any problems or difficulties with this regime should be discussed with your specialist metabolic team Why has my child got GSD III Glycogen Storage Diseases are genetic This means that they are not brought about by anything that my have occurred during or after pregnancy This genetic disorder is inherited from both mum and dad neither of whom are likely to have the condition themselves The instructions to make a human being are contained in our genes For most of our characteristics we have two copies of a gene one inherited from mum and one from dad We each have 6 or 7 mistakes mutations in the thousands of our genes but so long as we have one working copy of a gene it can do the job of both genes Emergency plans for use at home and in hospital will be given to you for your child in case of illness or suspected hypoglycaemia With this form of inheritance when you have a baby you and your partner carry the same genetic mistake there is a 1 in 4 chance with every pregnancy that these two faulty genes will come together and so the baby has no fully working copy of the gene The result is that the enzyme is not made correctly as the instructions are faulty and the condition therefore develops Rapid access will be set up for you at your local hospital so that your child can be seen immediately and treatment started without delay Your hospital team will offer you the opportunity to meet with a geneticist who can explain inheritance and any other concerns you may have for siblings or other relatives Most children do very well with this management particularly as symptoms tend to improve as they get older
GSD III GSD 3 Before reading too much about GSD III please be assured that with good dietary management people can lead a relatively normal life can have unaffected children and should live to old age Symptoms Initial symptoms can vary common childhood symptoms are A swollen abdomen tummy due to an enlarged liver A history of poor growth or short stature Frequent feeding always hungry Episodes of low blood sugars hypoglycaemia on fasting Excessive sweating particularly in the morning Those affected by GSD III may find their symptoms become easier to manage as they become adults We generally need less energy as we get older because we are not growing Potential complications in later life Progressive muscle weakness GSD IIIa Thickening of the heart muscles GSD IIIa Cirrhosis Scarring and or adenomas on the liver GSD III is caused by a defect in the debranching enzyme The defective enzyme prevents glucose from being properly extracted and so glycogen continues to build up in the body This accounts for the enlarged liver and swollen abdomen and produces the symptoms of low blood sugar www agsd org uk Treatment Management of GSD III is aimed at avoiding hypoglycaemia and maximising the child s growth potential With frequent feeds many of the potential side effects of GSD III can be avoided Each hospital has its own system in relation to emergencies and you will be told who to contact and where to take your child if such a situation should arise Children with GSD III cannot go without food for more than a few hours and are otherwise at risk of dangerously low blood sugars Regular feeds or meals throughout the day and overnight feeds are necessary Parents will quickly learn to assess their child and make decisions on the use of an emergency plan This is not always easy and your specialist team will support you in this decision making process After the child is over one year old a slow release carbohydrate can be used such as uncooked cornstarch cornflour or a modified cornstartch e g Glycosade divided into a few doses during the day to maintain a steady blood glucose level Glucogel can be used when your child shows signs of severe hypoglycaemia such as not responding or fitting as it is instant sugar that is given and absorbed in the mouth This should be given in an emergency whilst waiting for an ambulance To ensure the child receives a constant supply of energy tube feeding is usually required overnight This is because our bodies still need energy while we re asleep and it is easier to use a tube than to be waking up during the night every few hours to have something to eat It means the child can have the energy they need and get continuous sleep A Glucagon injection is often given for diabetes but should NOT be given when the patient is hypoglycaemic becase it stimulates glycogen release GSD children have problems releasing glycogen stores so it will be ineffective A nasogastric tube will be inserted and parents are helped to manage the feeds When the person with GSD III is older a gastrostomy may be required With both of these tubes your child is still able to eat and drink They are used to enable your child to have a regular energy supply and are both reversible so that if your child s fasting tolerance increases they can be removed A specialist dietician will give you a regular feeding regime a plan for each day that must be followed Any problems or difficulties with this regime should be discussed with your specialist metabolic team Why has my child got GSD III Glycogen Storage Diseases are genetic This means that they are not brought about by anything that my have occurred during or after pregnancy This genetic disorder is inherited from both mum and dad neither of whom are likely to have the condition themselves The instructions to make a human being are contained in our genes For most of our characteristics we have two copies of a gene one inherited from mum and one from dad We each have 6 or 7 mistakes mutations in the thousands of our genes but so long as we have one working copy of a gene it can do the job of both genes Emergency plans for use at home and in hospital will be given to you for your child in case of illness or suspected hypoglycaemia With this form of inheritance when you have a baby you and your partner carry the same genetic mistake there is a 1 in 4 chance with every pregnancy that these two faulty genes will come together and so the baby has no fully working copy of the gene The result is that the enzyme is not made correctly as the instructions are faulty and the condition therefore develops Rapid access will be set up for you at your local hospital so that your child can be seen immediately and treatment started without delay Your hospital team will offer you the opportunity to meet with a geneticist who can explain inheritance and any other concerns you may have for siblings or other relatives Most children do very well with this management particularly as symptoms tend to improve as they get older
GSD III GSD 3 Before reading too much about GSD III please be assured that with good dietary management people can lead a relatively normal life can have unaffected children and should live to old age Symptoms Initial symptoms can vary common childhood symptoms are A swollen abdomen tummy due to an enlarged liver A history of poor growth or short stature Frequent feeding always hungry Episodes of low blood sugars hypoglycaemia on fasting Excessive sweating particularly in the morning Those affected by GSD III may find their symptoms become easier to manage as they become adults We generally need less energy as we get older because we are not growing Potential complications in later life Progressive muscle weakness GSD IIIa Thickening of the heart muscles GSD IIIa Cirrhosis Scarring and or adenomas on the liver GSD III is caused by a defect in the debranching enzyme The defective enzyme prevents glucose from being properly extracted and so glycogen continues to build up in the body This accounts for the enlarged liver and swollen abdomen and produces the symptoms of low blood sugar www agsd org uk Treatment Management of GSD III is aimed at avoiding hypoglycaemia and maximising the child s growth potential With frequent feeds many of the potential side effects of GSD III can be avoided Each hospital has its own system in relation to emergencies and you will be told who to contact and where to take your child if such a situation should arise Children with GSD III cannot go without food for more than a few hours and are otherwise at risk of dangerously low blood sugars Regular feeds or meals throughout the day and overnight feeds are necessary Parents will quickly learn to assess their child and make decisions on the use of an emergency plan This is not always easy and your specialist team will support you in this decision making process After the child is over one year old a slow release carbohydrate can be used such as uncooked cornstarch cornflour or a modified cornstartch e g Glycosade divided into a few doses during the day to maintain a steady blood glucose level Glucogel can be used when your child shows signs of severe hypoglycaemia such as not responding or fitting as it is instant sugar that is given and absorbed in the mouth This should be given in an emergency whilst waiting for an ambulance To ensure the child receives a constant supply of energy tube feeding is usually required overnight This is because our bodies still need energy while we re asleep and it is easier to use a tube than to be waking up during the night every few hours to have something to eat It means the child can have the energy they need and get continuous sleep A Glucagon injection is often given for diabetes but should NOT be given when the patient is hypoglycaemic becase it stimulates glycogen release GSD children have problems releasing glycogen stores so it will be ineffective A nasogastric tube will be inserted and parents are helped to manage the feeds When the person with GSD III is older a gastrostomy may be required With both of these tubes your child is still able to eat and drink They are used to enable your child to have a regular energy supply and are both reversible so that if your child s fasting tolerance increases they can be removed A specialist dietician will give you a regular feeding regime a plan for each day that must be followed Any problems or difficulties with this regime should be discussed with your specialist metabolic team Why has my child got GSD III Glycogen Storage Diseases are genetic This means that they are not brought about by anything that my have occurred during or after pregnancy This genetic disorder is inherited from both mum and dad neither of whom are likely to have the condition themselves The instructions to make a human being are contained in our genes For most of our characteristics we have two copies of a gene one inherited from mum and one from dad We each have 6 or 7 mistakes mutations in the thousands of our genes but so long as we have one working copy of a gene it can do the job of both genes Emergency plans for use at home and in hospital will be given to you for your child in case of illness or suspected hypoglycaemia With this form of inheritance when you have a baby you and your partner carry the same genetic mistake there is a 1 in 4 chance with every pregnancy that these two faulty genes will come together and so the baby has no fully working copy of the gene The result is that the enzyme is not made correctly as the instructions are faulty and the condition therefore develops Rapid access will be set up for you at your local hospital so that your child can be seen immediately and treatment started without delay Your hospital team will offer you the opportunity to meet with a geneticist who can explain inheritance and any other concerns you may have for siblings or other relatives Most children do very well with this management particularly as symptoms tend to improve as they get older
Cori Disease Another name for GSD III in honour of the 1947 Nobel laureates Carl Cori and Gerty Cori Cornflour Cornstarch A source of slow release energy used to treat Glycogen storage diseases The intestines convert it into glucose and pass it directly into the bloodstream Debranching Enzyme A chemical made by the body that helps to breakdown glycogen into glucose sugar Forbes Disease Another name for GSD III in honour of American clinician Gilbert Burnett Forbes Glucose A simple sugar and the human body s key source of energy Glycogen The main storage form of glucose sugar in the body GSD IIIa affects both the liver and muscles GSD IIIb affects only the liver Hypoglycaemia often refered to as a hypo An abnormally low level of blood sugar Early warning signs are hunger trembling and sweating If severe there may be confusion and difficulty concentrating In very severe cases the person experiencing hypoglycaemia may lose consciousness Hepatomegaly An enlargement of the liver caused in GSD III by excessive amounts of stored glycogen Ketones Ketone bodies are molecules produced by the liver from fatty acids during periods of carbohydrate restriction The body can produce energy from ketones instead of glucose Ketosis A metabolic state where most of the body s energy supply comes from ketone bodies in the blood Significant keytosis often accompanies hypoglycaemia in GSD III patients Acknowledgements This leaflet was produced by the AGSD UK GSD III support team who are grateful for the considerable input from Elaine Salmons Senior Specialist Nurse Birmingham Children s Hospital Further reading AGSD UK literature available online or in print Please contact the coordinator or office for details of our growing number of publications Genetic Alliance www GeneticAlliance org uk Produce a number of useful patient leaflets including Health Insurance Life Insurance Genetics GSDNet GSD III Cori Disease Also known as Glycogen Storage Disease Type 3 Cori Disease Forbes Disease An online forum where questions can be answered by people from all over the world relating to GSD III and many other GSD issues Find the link on the AGSD UK website under Communications GOV UK www gov uk browse disabilities Advice about government services for disabled people Includes carers your rights benefits and the Equality Act Citizens Advice Bureau www citizensadvice org uk For benefits information and advice Use this link or contact your local bureau to arrange an appointment AGSD UK Support GSD III Coordinator email type3 agsd org uk Patients and families often find help from talking with others who have lived through the same experiences The AGSD UK can put you in touch with other patients families or carers AGSD UK Conference We hold an annual conference where families can meet to share experiences and talk to UK and international GSD III expert healthcare professionals and researchers AGSD UK office address Old Hambledon Racecourse Centre Sheardley Lane Droxford Hampshire SO32 3QY 0300 123 2790 UK National rates on mobiles 44 0 1489 877 991 International email info agsd org uk August 2014 GSD III Glossary Association for Glycogen Storage Disease UK Registered charity in England number 1132271 Association for Glycogen Storage Disease UK Ltd Company registered in England number 06981121 Registered office Crowe Clark Whitehill LLP Black Country House Rounds Green Road Oldbury West Midlands B69 2DG 0300 123 2790
Cori Disease Another name for GSD III in honour of the 1947 Nobel laureates Carl Cori and Gerty Cori Cornflour Cornstarch A source of slow release energy used to treat Glycogen storage diseases The intestines convert it into glucose and pass it directly into the bloodstream Debranching Enzyme A chemical made by the body that helps to breakdown glycogen into glucose sugar Forbes Disease Another name for GSD III in honour of American clinician Gilbert Burnett Forbes Glucose A simple sugar and the human body s key source of energy Glycogen The main storage form of glucose sugar in the body GSD IIIa affects both the liver and muscles GSD IIIb affects only the liver Hypoglycaemia often refered to as a hypo An abnormally low level of blood sugar Early warning signs are hunger trembling and sweating If severe there may be confusion and difficulty concentrating In very severe cases the person experiencing hypoglycaemia may lose consciousness Hepatomegaly An enlargement of the liver caused in GSD III by excessive amounts of stored glycogen Ketones Ketone bodies are molecules produced by the liver from fatty acids during periods of carbohydrate restriction The body can produce energy from ketones instead of glucose Ketosis A metabolic state where most of the body s energy supply comes from ketone bodies in the blood Significant keytosis often accompanies hypoglycaemia in GSD III patients Acknowledgements This leaflet was produced by the AGSD UK GSD III support team who are grateful for the considerable input from Elaine Salmons Senior Specialist Nurse Birmingham Children s Hospital Further reading AGSD UK literature available online or in print Please contact the coordinator or office for details of our growing number of publications Genetic Alliance www GeneticAlliance org uk Produce a number of useful patient leaflets including Health Insurance Life Insurance Genetics GSDNet GSD III Cori Disease Also known as Glycogen Storage Disease Type 3 Cori Disease Forbes Disease An online forum where questions can be answered by people from all over the world relating to GSD III and many other GSD issues Find the link on the AGSD UK website under Communications GOV UK www gov uk browse disabilities Advice about government services for disabled people Includes carers your rights benefits and the Equality Act Citizens Advice Bureau www citizensadvice org uk For benefits information and advice Use this link or contact your local bureau to arrange an appointment AGSD UK Support GSD III Coordinator email type3 agsd org uk Patients and families often find help from talking with others who have lived through the same experiences The AGSD UK can put you in touch with other patients families or carers AGSD UK Conference We hold an annual conference where families can meet to share experiences and talk to UK and international GSD III expert healthcare professionals and researchers AGSD UK office address Old Hambledon Racecourse Centre Sheardley Lane Droxford Hampshire SO32 3QY 0300 123 2790 UK National rates on mobiles 44 0 1489 877 991 International email info agsd org uk August 2014 GSD III Glossary Association for Glycogen Storage Disease UK Registered charity in England number 1132271 Association for Glycogen Storage Disease UK Ltd Company registered in England number 06981121 Registered office Crowe Clark Whitehill LLP Black Country House Rounds Green Road Oldbury West Midlands B69 2DG 0300 123 2790