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.
MeSH terms
-
Acid-Base Equilibrium
-
Acidosis / blood
-
Acidosis / diagnosis
-
Acidosis / drug therapy
-
Child, Preschool
-
Gas Chromatography-Mass Spectrometry
-
Hemiterpenes
-
Humans
-
Male
-
Metabolism, Inborn Errors / blood
-
Metabolism, Inborn Errors / diagnosis*
-
Metabolism, Inborn Errors / drug therapy
-
Pentanoic Acids / blood*
-
Sodium Bicarbonate / administration & dosage
-
Sodium Bicarbonate / therapeutic use
Substances
-
Hemiterpenes
-
Pentanoic Acids
-
isovaleric acid
-
Sodium Bicarbonate