Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy.
case_report · Level V
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- Record sourced from PubMed, PMID 8765634.
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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.
Medical subject headings
- Metabolism, Inborn Errors
- Pentanoic Acids