Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy.
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.
Mehta
K C
KC
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.
Zsolway
K
K
Osterhoudt
K C
KC
Krantz
I
I
Henretig
F M
FM
Kaplan
P
P
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
D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; D017693:Sodium Bicarbonate