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Published on: March 23, 2013
Propionic acidemia mimicking diabetic ketoacidosis
Imad M Dweikat1, Enas N Naser, Abdulsalam I Abu Libdeh
1Metabolic Unit, Makassed Hospital, Jerusalem, Israel; Pediatric Department, Makassed Hospital, Jerusalem, Israel. imaddweikat@yahoo.ca
Brain & Development
|July 17, 2010
Summary
Propionic acidemia, a rare metabolic disorder, can present with severe hyperglycemia mimicking diabetic ketoacidosis. This case highlights a survivor of late-onset propionic acidemia, emphasizing the importance of considering inborn errors of metabolism.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Propionic acidemia is an inherited metabolic disorder affecting amino acid metabolism.
- Neonatal-onset propionic acidemia typically presents with severe symptoms and high mortality.
- Hyperglycemia as a primary manifestation of propionic acidemia is uncommon.
Observation:
- A 9-month-old boy presented with coma, severe hyperglycemia, and ketoacidosis, clinically resembling diabetic ketoacidosis.
- A family history of unexplained infant deaths was a crucial diagnostic clue.
- The patient's presentation was consistent with late-onset propionic acidemia.
Findings:
- The patient successfully responded to treatment, recovering consciousness without neurological deficits.
- This case represents a rare survival of late-onset propionic acidemia with this specific clinical presentation.
- Diagnostic challenges include differentiating from more common conditions like diabetic ketoacidosis.
Implications:
- This case expands the known clinical spectrum of propionic acidemia.
- It underscores the importance of considering inborn errors of metabolism in infants presenting with severe metabolic disturbances.
- Early diagnosis and appropriate management can lead to favorable outcomes even in rare presentations.
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