title: Adolescent presentations of inborn errors of metabolism.
abstract: Several studies have shown that a large percentage of inborn errors of metabolism is present in adolescent patients. Individually, each diagnosis in this category of diseases is rare; therefore, there is often a significant delay in determining the etiology of a patient's complaints. These disorders can have a wide variety of multisystemic presentations, several of which overlap with more common disorders of adolescence. This review highlights the red-flag findings on history and physical examination indicating a possible inborn error of metabolism. In addition, a systematic approach for evaluating and categorizing these disorders is introduced and demonstrated through case examples. Primary care physicians play a crucial role in the early detection and prompt treatment of patients with late-onset inborn errors of metabolism.
authors.affiliation: Department of Pediatrics, Division of Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Rebecca C
authors.initials: RC
authors.lastname: Ahrens-Nicklas
authors.affiliation: Department of Pediatrics, Division of Adolescent Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Gail
authors.initials: G
authors.lastname: Slap
authors.affiliation: Department of Pediatrics, Division of Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: Ficicioglu@email.chop.edu.
authors.forename: Can
authors.initials: C
authors.lastname: Ficicioglu
mesh_terms: D000293:Adolescent; D042241:Early Diagnosis; D006801:Humans; D008487:Medical History Taking; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology*; D010808:Physical Examination; D058007:Physicians, Primary Care
keywords: Adolescent health services; Fatty acid oxidation complex; Inborn errors metabolism; Mitochondrial diseases; Neonatal screening; Urea cycle disorders