[Deficiency in medium chain acyl coA dehydrogenase manifested as febrile coma]
Annales De Pediatrie
|May 1, 1993
Summary
A viral infection triggered coma in an infant diagnosed with Acyl CoA dehydrogenase deficiency. Early urine testing during illness is crucial for diagnosing metabolic disorders and preventing severe outcomes.
Area of Science:
- Biochemistry
- Pediatrics
- Metabolic Disorders
Background:
- Viral infections can precipitate metabolic crises in infants.
- Acyl CoA dehydrogenase deficiency is a rare genetic disorder affecting fatty acid metabolism.
Observation:
- A 21-month-old infant presented with coma and hypotonia during a viral infection.
- Initial diagnosis was Acyl CoA dehydrogenase deficiency based on urine organic acid chromatography.
Findings:
- Urine organic acid chromatography identified Acyl CoA dehydrogenase deficiency during the acute illness.
- Similar symptoms can arise from other mitochondrial and fatty acid oxidation disorders.
Implications:
- Collecting urine during altered consciousness and hypoglycemia without ketonuria is vital.
- Urine chromatography aids in identifying potential enzyme defects.
- Confirmatory testing of fatty acid oxidation in lymphocytes or fibroblasts is essential for definitive diagnosis.
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