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Neonatal onset propionic acidemia without acidosis: a case report.
Ipek Akman1, Sebahat Imamoğlu, Mübeccel Demirkol
1Department of Pediatrics, Marmara University Faculty of Medicine, Istanbul, Turkey.
The Turkish Journal of Pediatrics
|December 3, 2002
Summary
Propionic acidemia, a metabolic disorder, can present with severe neurological issues and high ammonia levels, even without ketoacidosis. Early diagnosis and treatment are crucial for infants with this condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Propionic acidemia is an inherited metabolic disorder.
- It typically presents with ketoacidosis and hyperammonemia.
Observation:
- A neonate with propionic acidemia exhibited significant neurological problems without ketoacidosis.
- The patient presented with extremely high serum ammonia levels (3,500 microg/dl).
Findings:
- Peritoneal dialysis rapidly normalized ammonia levels within 48 hours.
- Neurological status showed remarkable improvement following dialysis.
- Despite treatment, the infant developed Candida albicans peritonitis, sepsis, and died from cardiorespiratory failure.
Implications:
- Propionic acidemia should be considered in neonates with neurological symptoms and hyperammonemia, irrespective of acidosis.
- Early-onset propionic acidemia is associated with high mortality and morbidity rates.
- This case highlights the importance of considering atypical presentations of metabolic disorders.