INBORN-ERRORS OF METABOLISM - MEDICAL AND ADMINISTRATIVE ORPHANS

Context: Inborn errors of metabolism are genetic conditions that affec t the normal biochemical functions of the body in any organ and at any age. More than 500 metabolic diseases are known; almost all are class ified as orphan diseases under the US Food and Drug Administration gui delines (incidence <200,000 persons) and each has its own requirements for diagnosis and treatment. Management of these complex, lifelong, m ultisystem disorders often requires a coordinated, multidisciplinary a pproach involving several subspecialists and which may include complex laboratory evaluations, genetic counseling, nutritional therapy, and unusual therapeutic approaches that have been used in only a small num ber of cases. Results: Not infrequently, inborn errors of metabolism f all outside current standard diagnostic and treatment guidelines of ma naged care plans. This results in delays in diagnosis and appropriate management, with increased costs to patients and to society. Conclusio ns: Patients with inborn errors of metabolism should not be discrimina ted against and all health plans should specify that access to special ists and metabolic centers are a covered benefit of the plan. The acce ptance of treatment guidelines, the development of international disea se classification codes for the disorders, and the performance of cost -benefit analyses would all greatly facilitate this process. However, without recognition that these disorders require such services, and st eps to provide them by the insurance industry, the care of children wi th metabolic disorders and other chronic diseases will continue to be a source of frustration and anger among the caregivers and the familie s they serve.