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- W4381385275 abstract "Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that is caused by a defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in the accumulation of propionic acid. If the patient is having conditions with increased metabolic demand followed by catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and rare cases are present in young adulthood. This disorder most commonly is characterized by episodic decompensation with dehydration, lethargy, nausea, and vomiting. Early identification and initial management are crucial to prevent the mortality and morbidity of patients. Our case is the first baby of consanguineous parents, presented with vomiting, Poor feeding, and severe dehydration on day four of life. In developed countries, early detection is done with newborn screening, but in Sri Lanka like third world countries it is not possible due to poor resources. The take-home message is if a newborn who is a product of consanguineous parents presented with non-specific symptoms, always think about the metabolic disorders which need urgent intervention to save the child from acute and long-term complications." @default.
- W4381385275 created "2023-06-21" @default.
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- W4381385275 date "2023-05-22" @default.
- W4381385275 modified "2023-09-23" @default.
- W4381385275 title "Neonatal Propionic Acidemia: A Case Report in the Sri Lanka" @default.
- W4381385275 doi "https://doi.org/10.11648/j.ajim.20231103.11" @default.
- W4381385275 hasPublicationYear "2023" @default.
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