title: Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy.
abstract: Chronic, intermittent isovaleric acidemia was undiagnosed in a boy with an increased anion gap metabolic acidosis until the boy was 5 years of age. This case emphasizes the importance of maintaining a high index of suspicion for inborn errors of metabolism in patients with metabolic acidosis, even in late childhood.
authors.affiliation: Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.
authors.forename: K C
authors.initials: KC
authors.lastname: Mehta
authors.forename: K
authors.initials: K
authors.lastname: Zsolway
authors.forename: K C
authors.initials: KC
authors.lastname: Osterhoudt
authors.forename: I
authors.initials: I
authors.lastname: Krantz
authors.forename: F M
authors.initials: FM
authors.lastname: Henretig
authors.forename: P
authors.initials: P
authors.lastname: Kaplan
mesh_terms: D000136:Acid-Base Equilibrium; D000138:Acidosis / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy; D002675:Child, Preschool; D008401:Gas Chromatography-Mass Spectrometry; D045782:Hemiterpenes; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy; D010421:Pentanoic Acids / Q000097:blood*; D017693:Sodium Bicarbonate / Q000008:administration & dosage / Q000627:therapeutic use
chemical_list: D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; D017693:Sodium Bicarbonate