Inborn Errors of Metabolism: A New Purview of Internal Medicine

Historically, the diagnosis and care of patients with inborn errors of metabolism have been the realm of pediatricians. That most of these have been thought to present exclusively in infancy and childhood and that screening programs for several exist in 40 states have served to establish the boundaries. Early diagnosis, excellent dietary management, biochemical interventions, and good general medical care, however, have begun to erase the previous limits, with a steadily increasing number of patients with inherited biochemical defects surviving into adulthood. The article by Talente and colleagues [1] in this issue of Annals, detailing the medical complications found in adult patients with glycogen storage disease, emphasizes a disorder that was previously the purview of pediatricians but now deserves the attention of internists.

Indeed, this disease is only one example of the many childhood biochemical disorders that now extend into adulthood. Patients with cystic fibrosis now live into their 30s and require care by internal medicine subspecialists. Many patients with phenylketonuria now survive to adulthood, and pregnant women must be carefully monitored because the lack of proper dietary management has devastating consequences for the newborn. Older patients with galactosemia may develop neurologic syndromes, and most women with the disorder have ovarian failure that requires hormonal management and treatment of abnormally low bone …