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Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy
K C Mehta1, K Zsolway, K C Osterhoudt
1Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.
The Journal of Pediatrics
|August 1, 1996
Insights
Isovaleric acidemia, a metabolic disorder, often goes undiagnosed in children with metabolic acidosis. Early suspicion of inborn errors of metabolism is crucial for timely diagnosis and treatment.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Metabolic acidosis in children can stem from various causes, including inborn errors of metabolism.
- Isovaleric acidemia is a rare genetic disorder affecting amino acid metabolism.
Observation:
- A 5-year-old boy presented with chronic, intermittent metabolic acidosis with an elevated anion gap.
- The underlying cause, isovaleric acidemia, remained undiagnosed until late childhood.
Findings:
- Delayed diagnosis of isovaleric acidemia highlights challenges in identifying metabolic disorders.
- Increased anion gap metabolic acidosis can be a presenting sign of inborn errors of metabolism.
Implications:
- Emphasizes the need for a high index of suspicion for inborn errors of metabolism in pediatric patients with unexplained metabolic acidosis.
- Suggests that diagnostic workups for metabolic acidosis should consider rare genetic conditions, even in older children.
- Highlights the importance of early detection for improved patient outcomes in metabolic disorders.
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.