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.

Keywords: Adolescent health services; Fatty acid oxidation complex; Inborn errors metabolism; Mitochondrial diseases; Neonatal screening; Urea cycle disorders.