Neonatal Propionic Acidemia: A Case Report in the Sri Lanka

Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that caused by defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in accumulation propionic acid. If patient having conditions with increased demand followed catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and cases are young adulthood. This most commonly characterized episodic decompensation dehydration, lethargy, nausea, vomiting. Early identification initial management crucial to prevent mortality morbidity patients. Our case first baby consanguineous parents, presented vomiting, Poor feeding, severe dehydration on day four life. In developed countries, early detection done newborn screening, but Sri Lanka like third world countries it not possible due poor resources. The take-home message if who product parents non-specific symptoms, always think about disorders need urgent intervention save child from long-term complications.