A COMPREHENSIVE list of resources is vital to a successful dietetic practice. Whether you are just starting to see patients with genetic metabolic disorders or have spent your career in this field, there are always new resources to expand or update your current resource library. In this section, you will find an extensive list of available resources for the field of genetic metabolic nutrition combined into one location.
The list is divided into categories and includes listings of organizations for patients and professionals, federal and state resources, select references from articles in this issue, print resources for patients and professionals, industry produced resources, contacts for medical and low protein food companies and pharmaceutical and supplement resources. While every effort was made to be as comprehensive as possible, the author recognizes that some resources might have been overlooked.
Organizations for Professionals and Patients
Patient Advocacy Organizations
Canadian Directory of Genetic Support Groups http://www.lhsc.on.ca/programs/medgenet/
The directory is designed as a resource guide for families and professionals seeking information on genetic support groups in Canada.
Canadian Organization for Rare Disorders (CORD) http://www.cord.ca
CORD is Canada's national network for organizations representing all those with rare disorders.
Canadian PKU and Allied Disorders, Inc. http://www.canpku.org
A non-profit organization based in Toronto, Ontario dedicated to providing up-to-date, accurate news and information to families and professionals dealing with phenylketonuria.
Children's PKU Network http://www.pkunetwork.org
A non-profit organization dedicated to maintaining an agenda of public awareness, education and direct assistance through a variety of programs, to help people with PKU and other disorders reach their full potential.
FOD Family Support Group http://www.fodsupport.org
A volunteer non-profit organization whose mission is to connect and network with FOD Families and Professionals around the world and to provide emotional support, Family Stories, practical information about living with these disorders, and Medical Updates to inform families of new developments in screening, diagnosis, research and treatment.
Galactosemia Association of the North Eastern States http://www.galactosemia.com
An organization whose mission is creating and strengthening opportunities for networking among individuals and families affected by galactosemia with medical providers, and to support education and research related to the study, treatment, management and a cure of the disease.
Genetic Alliance http://www.geneticalliance.org
The world's leading nonprofit health advocacy organization committed to transforming health through genetics.
Human Growth Foundation http://www.hgfound.org
A voluntary, non-profit organization whose mission is to help children, and adults with disorders of growth and growth hormone through research, education, support, and advocacy.
Maple Syrup Urine Disease (MSUD) Family Support Group http://www.msud.org
A non-profit 501(c)(3) organization for those with MSUD and their families and includes health-care professionals and others interested in MSUD.
March of Dimes "A Parent's Guide to Newborn Screening" http://www.marchofdimes.com/professionals/14332_1200.asp
A non-profit organization dedicated to improving the health of babies by preventing birth defects, premature birth and infant mortality.
National Down Syndrome Society (NDSS) http://www.ndss.org
The national advocate for the value, acceptance and inclusion of people with Down syndrome.
National Neurofibromatosis Foundation http://www.ctf.org
A non-profit medical foundation, dedicated to improving the health and well being of individuals and families affected by the neurofibromatoses.
National Organization for Rare Disorders (NORD) http://www.raredisorders.org
A unique federation of individuals and organizations working together to build a better world for people affected by rare diseases
National PKU News http://www.pkunews.org
A non-profit organization located in Seattle, Washington dedicated to providing up-to-date, accurate news and information to families and professionals dealing with phenylketonuria.
National PKU Alliance http://www.npku.org
The only national non-profit organization dedicated to supporting those affected by the genetic disorder phenylketonuria.
National Urea Cycle Disorders Foundation http://www.nucdf.org
A non-profit organization dedicated to the identification, treatment and cure of urea cycle disorders.
Organic Acidemia Association http://www.oaanews.org
A volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders.
Parent's of Galactosemic Children, Inc. (PGC) http://www.galactosemia.org
A national, non-profit, volunteer organization whose mission is to provide information, support, and networking opportunities to families affected by galactosemia.
Save Babies Through Screening http://www.savebabies.org
The only national non-profit organization devoted exclusively to the advocacy of newborn screening.
United Mitochrondia Disease Foundation http://www.umdf.org
A non-profit organization whose mission is to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.
Professional Organizations These organizations host annual or biannual educational meetings. You may contact them for details on their upcoming meeting by using the website addresses listed below.
American College of Medical Genetics (ACMG) http://www.acmg.net
The ACMG provides education, resources and a voice for the medical genetics profession.
American Dietetic Association (ADA) http://www.eatright.org
The ADA is the world's largest organization of food and nutrition professionals.
American Society of Human Genetics (ASHG) http://www.ashg.org
ASHG is the primary professional membership organization for human genetics specialists worldwide.
Association of Genetic Technologists (AGT) http://www.agt-info.org
A non-profit professional organization established to promote cooperation and exchange of information among those engaged in classical cytogenetics, molecular and biochemical genetics, and to stimulate interest in genetics as a career.
Genetic Metabolic Dietitians International (GMDI) http://www.gmdi.org
GMDI is a nonprofit professional organization specifically for nutritionists and other health care practitioners who provide nutrition therapy for genetic metabolic disorders through clinical practice, education, advocacy, and research.
International Society of Nurses in Genetics (ISONG) http://www.isong.org
A global nursing specialty organization dedicated to fostering the scientific and professional growth of nurses in human genetics and genomics worldwide.
National Coalition for Health Professional Education in Genetics (NCHPEG) http://www.nchpeg.org
An "organization of organizations" committed to a national effort to promote health professional education and access to information about advances in human genetics.
National Society of Genetic Counselors (NSGC) http://www.nsgc.org
Promotes the professional interests of genetic counselors and provides a network for professional communications.
Society for the Study of Inborn Errors of Metabolism (SSIEM) http://www.ssiem.org
SSIEM fosters the study of inherited metabolic disorders and related topics.
Society of Inherited Metabolic Disorders (SIMD) http://www.simd.org
A non-profit professional organization whose purpose is to promote the worldwide advancement of research and medical treatment of inherited disorders of metabolism.
Governmental Resources for Professionals and Patients
Federal Resources
Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)
http://www.hrsa.gov/heritabledisorderscommittee
Advises the Secretary of Health and Human Services regarding the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders.
CDC's Office of Public Health Genomics (OPHG) http://www.cdc.gov/genomics/
OPHG promotes the integration of genomics into public health research, policy, and practice to prevent disease and improve the health of all people
GeneTests http://www.nchbi.nlm.nih.gov/GeneTests/?db=GeneTests
A publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons.
Genetics Home Resource http://ghr.nlm.nih.gov/
Provides consumer-friendly information about the effects of genetic variations on human health.
Health Resources & Services Administration (HRSA) http://www.hrsa.org
The official website of the U.S. Department of Health and Human Services Administration.
Maternal & Child Health Bureau (MCH) http://www.mchb.hrsa.gov
National Coordinating Center (NCC) http://www.nccrcg.org
The Maternal and Child Health Bureau of the Health Resources and Services Administration (MCHB/HRSA), Genetic Services Branch (GSB) awarded grants to establish seven Genetics and Newborn Screening Regional Collaborative Groups (RCs) and a National Coordinating Center (NCC) as part of on-going efforts to improve the health of children and their families by promoting the translation of genetic medicine into public health and health care services.
National Human Genome Research Institute (NHGRI) http://www.genome.gov
National Institutes of Health http://www.nih.gov
The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the primary Federal agency for conducting and supporting medical research.
National Newborn Screening & Genetics Resource Center http://genes-r-us.uthscsa.edu
A cooperative agreement between the Maternal and Child Health Bureau http://, Genetic Services Branch and the University of Texas Health Science Center at San Antonio http://, Department of Pediatrics.
Online Mendelian Inheritance in Man (OMIM)http://www/ncbi.nlm.nih.gov/sites/entrez?db=omin
A comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes.
Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS)
http://oba.od.nih.gov/sacghs/sacghs_home.html
Advises the Secretary of Health and Human Services on the broad range of human health and societal issues raised by the development and use and potential misuse of genetic technologies.
Surgeon General's Family Health and History Initiative http://www.familyhistory.hhs.gov
The Surgeon General has created a new computerized tool to help make it fun and easy for anyone to create a sophisticated portrait of their family's health.
US Department of Health & Human Services (DHHS) http://www.os.dhhs.gov
The United States government's principal agency for protecting the health of all Americans and providing essential human services, especially for those who are least able to help themselves.
Virtual Library on Genetics
http://www.ornl.gov/sci/techresources/Human_Genome/genetics.shtml
State Resources-All states have newborn screening programs whose websites can be accessed through the National Newborn Screening & Genetics Resource Center.
National Newborn Screening & Genetics Resource Center http://genes-r-us.uthscsa.edu
A cooperative agreement between the Maternal and Child Health Bureau, Genetic Services Branch and the University of Texas Health Science Center at San Antonio, Department of Pediatrics
Screening, Technology And Research in Genetics (STAR- G) http://www.newbornscreening.info
This project began as a multi-state collaborative effort, led by the Hawaii Department of Health, to obtain research data, identify strategies and develop materials for addressing the financial, ethical, legal and social issues (FELSI) surrounding the use of MS/MS for neonatal metabolic screening of culturally and ethnically diverse populations. The project was funded by the Health Resources and Services Administration (HRSA) through a Special Projects of Regional and National Significance (SPRANS) grant.
Additional Educational Resources:
Clinical Trials Listing http://www.centerwatch.com
The global source of news, directories, proprietary market research, and analysis for clinical trials professionals and patients.
Genetics Education Center http://www.kumc.edu/gec/
The University of Kentucky Medical Center's website for educators interested in human genetics and the human genome project.
International Communication Forum in Human Molecular Genetics http://hum-molgen.org
One of the world's largest Internet sources for the latest information in HUMan MOLecular GENetics addition
National Center for Genome Resources http://www.ncgr.org
A non-profit research institute dedicated to improving human health and nutrition.
National Center for Hearing Assessment & Management http://www.ncham.org
A multidisciplinary center focused on the implementation and improvement of comprehensive and effective Early Hearing Detection and Intervention (EHDI) systems at Utah State University.
Select References from articles in this issue of TICN
The following are references that were cited in the articles in this issue of Topics. They were chosen because they are either review articles or seminal articles in the topic being presented.
Impact of Newborn Screening on Diagnosis and Treatment of IMD
Therrell BL, Williams D, Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR. Financing newborn screening: sources, issues, and future considerations. J Pub Health Manage Practice. 2007;13(2):207-213.
Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev. 2006;12:255-261.
Watson MS, Mann MY, Lloyd-Puryear MA, Howell RR (eds). Newborn Screening: toward a uniform screening panel and system. Genet Med. 2006;8(Suppl):1S-11S.
Koch, JH. Robert Guthrie: The PKU Story. Pasadena, CA: Hope Publishing House; 1997.
Fatty Acid Oxidation Defects
Vockley J, Singh RH, Whiteman DAH. Diagnosis and management of defects of mitochondrial B-oxidation. Curr Opin Clin Nutr Metab Care. 2002;5:601-609
Gillingham MB, Conner WE, Matern D et al. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2003;79:114-123.
Kompare M, Rizzo RB. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol, 2008;15:140-149.
Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006;142C(2):77-85.
Emergency management of IMD
Presentation and Management of Urea Cycle Disorders Outside the Newborn Period. Supplement to Crit Care Clin. 2005; 21(4)(suppl 1).
Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffman GF. Emergency management of inherited metabolic diseases. J Inherit Metab Dis. 2002; 25:531-546.
Fernandes J, Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases - Diagnosis and Treatment. Germany: Springer; 2006.
Alternative therapies for PKU
Schindeler S, Ghosh-Jerath S, Thompson S, Rocca A, Joy P, Kemp A, Rae C, Green K, Wilcken B, Christodoulou J. The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study. Molecular Genetics and Metabolism. 2007;91:48-54.
Harding CO. Progress toward cell-directed therapy for phenylketonuria. Clinl Genet. 2008;74:97-104.
Yi SHL, Singh RH. Protein substitute for children and adults with phenylketonuria. Cochrane Database of Systematic Reviews 2008, Issue 4. Art. No.: CD004731. DOI: 10.1002/14651858.CD004731.pub3.
Transplants in Metabolic Disorders
Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV. Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr. 2002;140(2):261-263.
Barshes NR, Vanatta JM, Patel AJ, et al. Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review. Pediatr Transplant. 2006;10:773-781.
Morioka D, Kasahara M, Horikawa R, Yokoyama S, Fukuda A, Nakagawa A. Efficacy of Living Donor Transplantation for Patients With Methylmalonic Acidemia. Am J Transplant. 2007;7:2782-2787.
McGuire PJ, Lim-Melia E, Diaz GA, et al. Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature. Mol Genet Metab. 2008;93:22-29.
Effect of Feeding and Exercise on Acylcarnitines in Children with LCHADD
Solis JO, Singh RH. Management of fatty acid oxidation disorders: a survey of current treatment strategies. J Am Diet Assoc. 2002;102(12):1800-1806.
Gillingham MB, Conner WE, Matern D et al. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2003;79:114-123.
Altered Fatty Acids in Young Children with PKU
Acosta PB, Yannicelli S, Singh R, Eisas LJ, Kennedy MJ, Bernstein L, Rohr F, Trahms C, Koch R, Breck J. Intake and blood levels of fatty acids in treated patients with phenylketonuria. J Pediatr Gastroenterol Nutr. 2001;33(3):253-259.
Lagerstedt SA, Hinrichs DR, Batt SM, Magera MJ, Rinaldo P, McConnell JP. Quantitative determination of plasa C8-C26 total fatty acids for biochemical diagnosis of nutritional and metabolic disorders. Mol Genet Metab. 2001;73(1):38-45.
Galli C, Agostoni C, Mosconi C, Riva E, Salari PC, Giovannini M. Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention. J Pediatr. 1991;119(4):562-567.
Mild Citrullinemia with Absence of Fibroblast Argininosuccinate Synthetase
Haberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Gent Metab. 2003;80(3):302-306.
Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab. 2004; 81(suppl 1):S20-6.
Ruitenbeek W, Kobayashi K, Lijima M, Smeitink JAM, Engelke UFH, Abreu RAD, Kwast HT, Saheki T, Boelen CA, Jong JGD, Wevers RA. Moderate citrullinemia without hyperammonemia in a child with mutated and deficient argininosccinate synthetase. Ann Clin Biochem. 2003;40(Pt 1):102-107.
Medical Food Companies Products and Resources
Abbott Nutrition
PO Box 1317
Columbus, OH 43216
1-800-986-8755
http://abbottnutrition.com/
Resources:
Family Guides
A Guide for the Family of the Child with Phenylketonuria (English and Spanish)
A Guide for the Family of the Child with Tyrosinemia Type 1
A Guide for the Family of the Child with Maple Syrup Urine Disease (English and Spanish)
A Guide for the Family of the Child with Propionic Acidemia
A Guide for the Family of the Child with Methylmalonic Acidemia
A Guide for the Family of the Child with Urea Cycle Disorder (English and Spanish)
A Guide for the Family of the Child with Isovaleric Acidemia (soon to be Disorder of Leucine Catabolism)
A Guide for the Family of the Child with Homocystinuria
A Guide for the Family of the Child with Galactosemia
A Guide for the Family of the Child with Glutaric Aciduria Type 1
A Guide for the Pregnant Woman with Phenylketonuria
Food Lists
Food List for Phenylketonuria
Food List for Maple Syrup Urine Disease
Food List for Urea Cycle Disorder
Food List for Propionic Acidemia
Print Resources
The Abbott Nutrition Metabolics Nutrition Support Protocols 4th Ed. (hard copy, zip file)
Metabolic Backgrounder
Metabolics Kit Tear Pad for Kit Program
Level 1 (infant/toddler) and Level 2 (children/adults) includes 1 free case of for-mula, diaper or sports bag, family guide on disorder, food list for disorder, shaker, newsletter/support group information for disorder(if available)
Why Can't I Eat That?
Metabolics Wall Chart
Applied Nutrition, Corp
10 Saddle Road
Cedar Knolls, NJ 07927
1-800-605-0410
1-973-734-0023
http://www.medicalfood.com/
http://www.dietforlife.com/ (low protein foods)
Resources:
My PKU Toolkit
Network PKU DVD
Medical Food and Low Protein Recipes
Cambrooke Foods, LLC
2 Central Street
Framingham, MA 01701
1-866-4-LOW-PRO(phone)
http://www.cambrookefoods.com
Resources:
DietWell(TM)
School Lunch Program
GreenLight(TM) Direct Billing Service
Phenometer
Cambrooke Foods Recipes and Tips
Low Protein Cooking Demos
Milupa, North America
22513 Gateway center Drive
Clarksburg, MD 20871
1-877-2MILUPA (phone)
1-877-264-5872 (phone)
http://www.milupana.com
Mead Johnson
Medical Department (Products)
2400 West Lloyd Expressway
Evansville, IN 47721
1-812-429-6399
http://www.meadjohnson.com/
Resources:
Online Patient Education Tools:
Adult PKU (PDF, 1.06MB)
Maternal PKU (PDF, 783K)
Parent's Guide to PKU (PDF, 1.31MB)
Your Baby and PKU from 6 to 12 months (PDF, 318K)
Your Baby and PKU from 12 to 18 months (PDF, 147K)
Your Baby and PKU from 18 to 24 months (PDF, 1.41MB)
Nutricia North America
PO Box 117
Gaithersburg, MD 20884
1-800-365-7354 Customer Service
1-877-280-4321 Metabolic Nutrition Support Helpline
http://www.shsna.com/
Resources:
Websites:
http://www.MetabolicPartners.com
http://www.Nutricia-NA.com
http://www.MySpecialDiet.com
Print Resources:
PKU Newborn Caregiver's Kit
Maternal Resource Kit
PKU & MPKU Fact Sheet
Solace Nutrition
One Research Court
Suite 450
Rockville, MD 20850
1-888-8 SOLACE
1-888-876-5223
http://www.solacenutrition.com
Vitaflo USA
123 East Neck Road
Huntington, NY 11743
1-888-VITAFLO
1-888-848-2356
http://www.vitafloUSA.com
Resources:
Comprehensive range of printed product literature, including detailed product guide available through Vitaflo USA representatives
VitaFriends online community
Inherited Metabolic Disorders Visual Aids Book (partnered with Denver Children's Hospital)
Imaginative Recipe Tools recipe book for use with MCT Procal (partnered with Denver Children's Hospital)
Formula For Fun workshops available for patients and families with metabolic disorders
Nutrition data sheets in PDF format available on Vitaflo USA website.
Low Protein Product Resources
Cambrooke Foods
http://www.cambrookefoods.com
1-866-4-LOWPRO
Dietary Specialties
http://www.dietspec.com
1-888-640-2800
Ener G Foods
http://www.energ.com
1-800-331-5222
Maddy's Low Protein Food Products
http://www.dietforlife.com
1-800-605-0410
Milupa North America
http://www.milupana.com or http://www.shsna.com
1-877-2MILUPA
1-800-365-7354
PKU Perspectives
http://www.pkuperspectives.com
1-866-PKU -FOOD
Taste Connections
http://www.tasteconnections.com
310-371-8861
Pharmaceutical and Supplement Resources
Accredo Health Group
http://www.accredo.com/referral/Cystadane.pdf
1-888-454-8860
Cystadane (betaine)
Biomarin
http://www.bmrn.com
1-866-906-6100
Kuvan
Naglayme
Aldurazyme
Print Resources:
More Phe More Choices: Think Healthy
Main Book and modules
Module 1: Early Childhood
Module 2: Teenager
Module 3: Adult
Coram Specialty Infusion Services
http://www.coramhc.com
1-800-267-2642
Parenteral Amino Acid Solutions
Enzymatic Therapy
http://www.enzymatictherapy.com
1-800-287-5972
Vitaline CoQ10
Fischer Scientific
http://www.fishersci.com
1-800-766-7000
Amino Acids
JoMar Laboratories
http://www.jomarlabs.com
1-800-538-4545
Amino Acids
Mericon Industries, Inc
http://www.mericon-industries.com
1-800-242-6464
Biotin (oral use only)
PreKUlab
http://www.prekulab.com
Distributed through Solace Nutrition
1-800-876-5223
Neophe
PreKUnil
Avonil
Rare Disease Theraputics, Inc.
http://www.raretx.com
1-615-399-0700
NTBC (Orfadin)
Scandinavian Formulas
http://www.scandinavianformulas.com
1-800-688-2276
Amino Acids
Sigma Tau Pharmaceuticals
http://www.carnitormetabolic.com
1-800-447-0169
Carnitine
Solace Nutiriton
http://www.solacenutrition.com
1-888-876-5223
Cyto-Q, Ubiquinol
Cytotine, Creatine Monohydrate
Cytose, D-Ribose
NanoVm
Spectrum Chemicals and Laboratory Products
http://www.spectrumchemical.com
1-800-813-1514
Amino Acids
Ucyclyd Pharma
http://www.ucyclyd.com
1-888-829-2593
Ammonul
Buphenyl
Vitaflo USA
http://www.vitafloUSA.com
1-888-848-2356
Isoleucine and valine
Print Resources
Publications and DVDs for Patients and Families
Apples to Zucchini: A Collection of Favorite Low Protein Recipes (2005) by Virginia Schuett and Dorothy Corry; Nutricia North America http://www.myspecialdiet.com 1- 800-365-7354
Low Protein Food List for PKU (Second Edition, 2002) by Virginia Schuett; Nutricia North America http://www.myspecialdiet.com 1- 800-365-7354
Low Protein Bread Machine Baking for PKU (1993) by Virginia Schuett; Nutricia North America http://www.myspecialdiet.com 1- 800-365-7354
Low Protein Cookery for PKU (1997) by Virginia Schuett; PKU News http://www.pkunews.org/diet/pkord2.htm
You and PKU: A book for children ages 3 to 8 (Second Edition, 1999) by Virginia Schuett and Margaret Taylor; Nutricia North America http://www.myspecialdiet.com 1- 800-365-7354
Emory PKU Food List Booklet
Emory MSUD Food List Booklet
Emory Nutrition Management of Urea Cycle Disorders Booklet
Emory Low Protein Cooking Conference 2004 Video/DVD
Available from: http://genetics.emory.edu/clinical/index.php?assetID=309 or by calling 404-778-8521
Understanding Galactosemia A Diet Guide
Sandy van Calcar, Phd, RD
2nd Edition (2000) available from: Biochemical Genetics Program, University of Wisconsin-Madison, Waisman Center, 1500 Highland Ave. Madison, WI 53705
3rd Edition (2010) in progress and will be distributed by Abbott Nutrition,
http://www.abbottnutrition.com or 1-800-986-8755
2-MBADD: A guide for Hmong families http://www.waisman.wisc.edu/2mbadd/
Teacher's Guide to PKU http://www.dshs.state.tx.us/newborn/teachpku.shtm
California Newborn Screening Educational Materials http://www.cdph.ca.gov/programs/nbs/Pages/NBSEducationMaterial.aspx
Publications and DVDs for Professionals
Acosta P. Nutrition Management of Patients with Inherited Metabolic Disorders. 1st ed. Sudbury, MA: Jones & Bartlett Publishers; 2010:476.
Acosta P, Yannicelli S. Abbott Metabolic Formula System: Nutrition Support Protocols. 4th ed. Abbott Laboratories; 2001:432.
Clarke J. A Clinical Guide to Inherited Metabolic Disorders. 3rd ed. New York, NY: Cambridge University Press; 2006:358.
Fernandes J, Saudubray J, van den Berghe G, Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. Heidelberg, Germany: Springer; 2006:561.
Nyhan W, Barshop B, Ozand P. Atlas of Metabolic Diseases. 2nd ed. London: Hodder Arnold Publication; 2005:788.
Sciver, C, Sly W, Childs B, Beaudet A, Valle D, Kinzler K, Vogelstein B. The Metabolic and Molecular Basis of Inherited Metabolic Disease. 8th ed. New York, NY: Mcgraw-Hill Professional; 2001:6338.
From Research to Reality: Addressing the Dietary Challenges of BH4, an Emerging Therapeutic Option for PKU Two disc DVD set http://genetics.emory.edu/NUTRITION/2007_pku_event.php/order.php
Eat Right Stay Bright An anticipatory guidance for professionals - Birth to Five Years, Elementary School Years, Adolescents and Maternal PKU.
Available in CD from Nutricia North America, http://www.myspecialdiet.com, 1-800-365-7354
Short Courses in Metabolic Nutrition
Emory Metabolic Nutrition Symposium
Emory Conference Center Hotel Atlanta, Georgia.
Genetic Metabolic Nutrition and Expanded Newborn Screening: Clinical Correlations. For more information contact: Rosalynn Borlaza, Program Coordinator, (404) 778-8521 or e-mail [email protected]
Metabolic University Educational Workshop
Children's Hospital Denver, Colorado
A distinctive education forum for practicing clinicians in inborn errors of metabolism For more information contact: Call Laurie Bernstein MS RD FADA at (303) 724-2341 or e-mail [email protected]