Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism

Abstract

Inborn errors of metabolism (IEM) are rare individually, but taken together, they affect 1 in 1,000 people. Most of the disease becomes apparent at the pediatric age; however, with the identification of late-onset forms, and with improved survival, several of these conditions may be found in adults of all ages. While the lung is not typically a primary site of clinical disease in patients with IEM, in some of them it can be a significantly affected organ with associated severe respiratory complications. Lung involvement can be a late- onset feature of a complex multisystemic disease, but sometimes it can also be the only manifestation of underlying IEM. The aim of this review is to focus on specific IEM associated with lung disease in adults and to provide the reader with an overview of the diagnostic workup, overall disease management, and specific treatments for the respiratory manifestations. Clinical suspicion, early recognition, prompt diagnosis, and appropriate care of the respiratory manifestation are crucial, as they can affect both the life expectancy and the quality of life of these patients.

Inborn Errors of Metabolism: The Achilles' Heel of the Respiratory System

“…In conclusion, we agree with Tran et al [5] that “clinical suspicion, early recognition, prompt diagnosis and appropriate care of respiratory manifestations are crucial,” and therefore, their review is a particularly important one.…”

“…The review by Tran et al [5] has the important merit of drawing attention to under-recognized entities in adults, those due to inborn errors of metabolism. Interestingly, we are reminded that the lung functions are not limited to respiration but also include major metabolic roles.…”

Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism

“…The following guidelines are based on our personal experience with an expansive, multicenter, integrated health care system and a careful review of the literature. Although there are many guidelines that can assist with guiding the transition to care, the individual needs of the patient need be considered [30,[33][34][35][36] and should take into account the many medical, psychosocial, educational and vocational needs of the patients.…”

Clouds over IEMs? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

“…Inherited metabolic diseases (IMD) are genetic disorders resulting from an enzyme defect and/or transport proteins in metabolic pathways affecting proteins, fat, carbohydrate metabolism or impaired organelle function. IMD present as complex medical conditions involving multiple organ systems (1). The most recent nosology of IMD includes well over 1000 disorders (2).…”