Regardless of the specific therapy plan, successful treatment of IEMs requires a multidisciplinary approach to include the expertise of the metabolic physician, metabolic dietitian, clinical nurse, genetic counselor, and social worker backed up by a full complement of medical specialists and ancillary services. Education of the family, genetic counseling, and family support are all essential components. Genetic counseling teaches the family about the risks associated with future pregnancies, demystifies the concepts of dysfunctional genes being passed from asymptomatic carrier to affected child, and provides support for families with a complex diagnosis. The availability and implications of prenatal diagnosis for IEMs are also explained. Heterozygote detection and the ethical issues of sharing that information within a family or with future mates are other issues that may be addressed by counseling. The care team must provide support to patients and families as they cope with special health care needs and in some cases developmental and/or intellectual disability. Educational goals include the successful implementation of the diet and the need for immediate intervention during metabolic crises. Additional online educational resources for patients and families are listed in Table 27.3.
Table 27.3. Selected Resources Related to Newborn Screening and Inborn Errors of Metabolism
| Newborn Screening | |
|---|---|
| Baby's First Test https://www.babysfirsttest.org | A clearinghouse that provides current educational and family support and services information, materials, and resources about newborn screening at local, state, and national levels. Resources for health professionals include links to the ACMG ACT Sheets and Algorithms, a database with state-specific information (screening and treatment resources), and a checklist for communicating with families about out-of-range newborn screening results. |
| Recommended Uniform Screening Panel http://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/ | The recommended uniform screening panel is a list of disorders that are screened at birth and recommender by the Secretary of the Department of Health and Human Services for state to screen as part of their state universal screening program. This website includes the recommended uniform screening panel, as well as supporting documentation and communication from the Advisory Committee on Heritable Disorders in Children. |
| Newsteps https://newsteps.org | This web-based resource of the Association of Public Health Laboratories maintains an up-to-date list of state screening programs and resources for newborn screening. |
| Inborn Errors of Metabolism and Genetics | |
| GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1116/ | GeneReviews provides clinically relevant information about inherited conditions, including inborn errors of metabolism. Each condition-specific chapter reviews diagnosis, management, and genetic counseling. |
| Genetics Home Reference https://medlineplus.gov/genetics/ | This website provides consumer-friendly information about the effects of genetic variation on human health, including IEMs. |
| Medical Genetics in Pediatric Practice Saul RA, ed. American Academy of Pediatrics; 2013 https://doi.org/10.1542/9781581104974 | This resource includes practice-focused information, including genetics and testing basics, indications for genetic testing and/or consultation, and case-based examples. |
| Inborn Metabolic Diseases - Diagnosis and Treatment, 6th edition. Saudubray JM, et al, eds. Springer; 2012. E-book for purchase: https://www.springer.com/us/book/9783642157202 | This textbook includes information about diagnosis and management of inborn errors of metabolism, as well as metabolic pathways and pathophysiology involved in inborn errors of metabolism. |
| Management Guidelines | A number of evidence-based management guidelines have been published, including guidelines for diagnosis and management of PKU, nutritional management of PKU, and nutritional management of maple syrup urine disease (MSUD):
|
| Orphanet is a resource with information about rare diseases, including IEMs. It includes information in various languages. |
| Advocacy and Family Support Organizations | |
| NORD - National Organization for Rare Disorders https://rarediseases.org/ | NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. Activities include patient advocacy, patient and professional education, patient assistance program, research support, international partnerships, and mentorship for patient organizations. |
| Global Genes https://globalgenes.org/ | Global Genes is a rare disease patient advocacy organization. Resources include advocacy, research, and tools for individuals and organizations. |
| National PKU Alliance (NPKUA) https://www.npkua.org | The NPKUA works to improve the lives of families and individuals associated with PKUthrough research, support, education, and advocacy, while ultimately seeking a cure. Resources include patient education materials, research grants, and information about US clinics. |
| Genetic Alliance https://www.geneticalliance.org/ | The mission of Genetic Alliance is to engage individuals, families, and communities to transform health. |
| Professional Organizations | |
| American College of Medical Genetics and Genomics (ACMG) https://www.acmg.net/ | The mission of ACMG is to develop and sustain genetic and genomic initiatives in clinical and laboratory practices, education, and advocacy. |
| American Academy of Pediatrics (AAP) https://www.aap.org | The AAP is an organization of pediatricians committed to the optimal physical, mental, and social health and well-being for all infants, children, adolescents, and young adults. |
| Genetic Metabolic Dietitians International (GMDI) https://gmdi.org/ | The mission of GMDI is to provide standards of excellence and leadership in nutrition therapy for genetic metabolic disorders through clinical practice, education, advocacy, and research. The GMDI website includes a "Find a Metabolic Dietitian" map that includes contact information for metabolic dietitians in the US and Canada. |
| Society for Inherited Metabolic Disorders (SIMD) https://www.simd.org/ | SIMD aims to increase knowledge of and promote research in inborn errors of metabolism in humans and to stimulate interactions between clinicians and investigators in inborn errors of metabolism. |
Nutritional therapies will continue to be the cornerstone of treatment for most IEMs in the foreseeable future, and involvement of a metabolic dietitian (https://gmdi.org/) is key to successful and safe interventions. The lessons learned with several IEMs, especially PKU, emphasize the need for lifelong therapy in all these disorders. The necessity of "diet for life" has been affirmed by multiple groups.24,25,26 This necessity, therefore, requires a long-term commitment from parents, patient, and health care providers to implement and maintain the appropriate dietary therapy. The needs of an individual for energy, protein, and cofactors change with age and body mass. Therapeutic diets must be established and reevaluated at regular intervals to allow for the most normal growth and development possible. The adequacy of nutritional therapy must be assessed periodically through combinations of diet record review, anthropometric assessment, and laboratory testing. Cooperation of the patient, family, and the metabolic clinic as a dedicated team throughout the life of the patient is essential for successful treatment of an IEM.
AAP Recommendations on Reimbursement for Foods for Special Dietary Use10
All foods for special dietary use with accepted benefit for treatment of a medical condition should be reimbursed as a medical expense, provided the costs are over and above usual foods. Individual and family financial barriers to obtaining these foods should be removed.
All states should enact legislation that would require health insurance policy providers to reimburse all foods for special dietary use with accepted medical benefit recommended by a physician to prevent death and serious disability or to foster normal growth and development.
All expenses for medical equipment and medical supplies necessary for the delivery of foods for special dietary use should be reimbursed.
Reimbursement for foods for special dietary use should be mandatory for the following:
Any medical condition for which specific dietary components or the restriction of specific dietary components is necessary to treat a physical, physiologic, or pathologic condition resulting in inadequate nutrition.
An inherited metabolic disorder, including but not limited to disorders of carbohydrate metabolism, lipid metabolism, vitamin metabolism, mineral metabolism, or amino acid and nitrogen metabolism.
A condition resulting in impairment of oral intake that affects normal development and growth.