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The ASIEM Low Protein Handbook for Organic Acid Disorders

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The ASIEM Low Protein Handbook for Organic Acid Disorders The ASIEM Low Protein Handbook for Organic acid disorders ASIEM gratefully acknowledges the financial support of Nutricia, Vitaflo and Sharpe Laboratories Gold Sponsor Silver Sponsor Bronze Sponsor Sharpe Laboratories Acknowledgements This Low Protein handbook has been prepared by members of the Australasian Society for Inborn Errors of Metabolism (ASIEM), a special interest group of the Human Genetics Society of Australasia (HGSA). We especially wish to acknowledge the contribution of the editor, Sue Thompson, who revised chapters from the PKU Handbook and provided additional copy on specific metabolic disorders. We would like to thank families for sharing their experiences with us and providing additional quotes and the following health professionals and members of ASIEM: Rhonda Akroyd Dorothy Francis Dianne Webster Wendy Baker Lawrence Greed Mary Westbrook Ursula Bayliss Maureen Humphrey Bridget Wilcken Kevin Carpenter Anita Inwood Veronica Wiley John Christodoulou Rosie Junek Callum Wilson Barbara Dennison Merryn Netting Carolyn Ellaway Anne Rae Janice Fletcher Annabel Sweeney This handbook is based on the PKU Handbook published by ASIEM 2005. We would like to acknowledge and thank: . editor (Barbara Dennison) and the many ASIEM members and health professionals who contributed copy or advice, . copy editor (Jane McLean) and designer (Sam Panetta) . the sponsors (SHS, Vitaflo and Abbott) . the people with PKU and families with PKU who contributed significantly by making sure that useful information was included. Many of the quotes from people with PKU and their families are relevant to these other metabolic disorders and have been included in this handbook Copyeditor and design: Carol Fallows, Fallows & Associates Print management: Martin Fallows, Fallows & Associates Printed by South Coast Graphics ©HGSA 2007. Apart from fair dealings for the purpose of private study, research or review, as permitted under the Copyright Act, no part may be reproduced by any process without permission. Enquiries should be directed to the Chairman of the Australasian Society for Inborn Errors of Metabolism c/o HGSA Secretariat, PO BOX 362, Alexandria, Victoria 3714. Introduction This handbook contains information relevant to the management of many disorders affecting the metabolism of protein. Some of the sections are specific to the condition that you or your child has. Many sections cover a range of conditions that are managed in the same way―in these sections the condition is called metabolic disorder or metabolic condition. The common sections are relevant for the following metabolic conditions: Urea cycle disorders Carbamyl phosphate synthetase (CPS) deficiency N-acetylglutamate synthetase (NAGS) deficiency Ornithine transcarbamylase (OTC) deficiency Arginosuccinicaciduria Arginase deficiency Arginosuccinic acid synthetase (Citrullinaemia type 1) Maple syrup urine disease (MSUD) Tyrosinaemia type 1 and 2 Homocystinuria Organic acidaemias Glutaric aciduria type 1 Isovaleric acidaemia Methylmalonic acidaemia Propionic acidaemia Holocarboxylase synthetase deficiency Hyperornithinaemia (gyrate atrophy) Information in this handbook should only be used in conjunction with and should not replace advice from your Metabolic Team. Intro.1 Introduction Specific chapters for your metabolic condition □ Contents □ Chapter 1 What is (metabolic condition) □ Chapter 2 How the diagnosis will affect my baby and our family □ Chapter 3 Managing illness and pregnancy General Sections □ Contents □ Chapter 4 Blood samples □ Chapter 5 Understanding the special formula or supplement □ Chapter 6 Counting protein from food □ Chapter 7 Low protein foods: recipes, cooking and shopping □ Chapter 8 Feeding your baby □ Chapter 9 Feeding your child; starting solids and beyond □ Chapter 10 Meal planning and healthy food choices □ Chapter 11 Encouraging independence □ Chapter 12 Preparing for childcare, preschool and school □ Chapter 13 Parties, celebrations, camps, school excursions & eating out □ Chapter 14 Low protein diet: Teenagers and adults □ Chapter 15 Overseas travel □ Chapter 16 Financial assistance □ Chapter 17 Resources and support organisations □ Chapter 18 Quiz and problem solving □ Glossary □ Sponsors’ advertisements □ Contacts □ ASIEM food lists for protein counting □ Sick day recipes Intro.2 Contents What are organic acid disorders? Finding out about organic acid disorders ________________ 1.2 What causes organic acid disorders ____________________ 1.2 How organic acid disorders are detected ________________ 1.3 The treatment for organic acid disorders ________________ 1.4 The special diet for organic acid disorders _______________ 1.4 Feeding your baby__________________________________ 1.5 What to do when your baby gets sick ___________________ 1.5 Immunisations and medicines_________________________ 1.6 Feeding your toddler ________________________________ 1.6 Five food groups ___________________________________ 1.7 Fussy eaters and organic acid disorders _________________ 1.8 Giving your baby or child the medications_______________ 1.8 Growing up with an organic acid disorder _______________ 1.8 Teenagers and adults with organic acid disorders__________ 1.9 What happens during an illness________________________ 1.9 Making sense of blood test results ____________________ 1.10 Genetics and organic acid disorders—frequently asked questions ___________________________________ 1.11 Organic acid disorders: the science behind the conditions _ and their management _________________________________ 1.13 Chapter 2. MSUD, urea cycle disorders & organic acid disorders: how a diagnosis of this disorder will affect your baby and your family Your feelings______________________________________ 2.1 Taking one step at a time ____________________________ 2.2 Sharing the experience ______________________________ 2.3 A team approach ___________________________________ 2.3 Explaining the metabolic disorder _____________________ 2.4 Having another child________________________________ 2.5 Treating the metabolic disorder: the role of the family______ 2.5 1 Contents—Organic acid disorders Sample letters for child care, preschool and school teachers and for parents of your child’s friends and classmates_________ 2.8 Chapter 3. MSUD, urea cycle disorders & organic acid disorders: Managing illness, hospitalisation & pregnancy Why illness is serious ______________________________ 3.1 What happens during illness _________________________ 3.5 Protecting against illness ____________________________ 3.5 Hospitals—what to expect ___________________________ 3.9 Treatments that may be used in hospital _______________ 3.10 Other medical terms_______________________________ 3.11 Pregnancy_______________________________________ 3.12 Chapter 4. Blood samples About blood samples _______________________________ 4.1 How often blood samples are needed __________________ 4.2 Getting the results _________________________________ 4.2 What affects blood test results ________________________ 4.2 Involving children in their blood tests __________________ 4.3 How to take blood samples from the heel or finger________ 4.5 Trouble shooting card samples _______________________ 4.7 Tips for success with card samples ____________________ 4.8 Where to send card samples (NZ and Australia) __________ 4.8 Chapter 5. Understanding the special formula or supplement Different kinds of supplements _______________________ 5.1 Supplement supply_________________________________ 5.3 Taking the supplement______________________________ 5.4 Tips for parents of young children_____________________ 5.4 When your child refuses the supplement________________ 5.5 Taking the supplement when you are away from home ____ 5.6 2 Contents— Organic acid disorders Chapter 6. Counting protein from food The low protein diet ________________________________ 6.1 How protein intake is counted_________________________ 6.2 How to read food labels _____________________________ 6.2 How to calculate protein from food labels _______________ 6.3 Confusing nutrition information tables __________________ 6.3 Chapter 7. Low protein foods, recipes, cooking & shopping Substitutes for flour, egg and milk _____________________ 7.1 Tips for low protein cooking__________________________ 7.3 Low protein bread recipes____________________________ 7.4 Low protein cake, biscuit and scone recipes______________ 7.8 Low protein muffin, pancake, crumpet and pikelet recipes _ 7.11 Low protein custard recipes _________________________ 7.13 Finding recipes elsewhere___________________________ 7.14 Cook books with recipes for a low protein diet __________ 7.15 Cook books with easily adaptable recipes ______________ 7.15 Recipes and protein content _________________________ 7.15 How to adapt a recipe ______________________________ 7.15 General cook books________________________________ 7.16 Shopping list _____________________________________ 7.17 Chapter 8. Feeding your baby Breast and bottle feeding_____________________________ 8.1 Your newborn’s first days____________________________ 8.2 Re-starting breastfeeding or standard formula ____________ 8.2 Preparing, storing and feeding formula__________________ 8.3 How many feeds babies need _________________________ 8.4 How to express breast milk___________________________ 8.5 Looking after mum when breastfeeding _________________ 8.6 What to do if you are unwell when breastfeeding__________ 8.7 What to do if you are unable
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