The neurological toll: Understanding encephalopathy in propionic acidaemia

Niranjan Nagaraj; M Abhitej Reddy; Pamela Deb Roy; Srujana Swarna

doi:10.33545/26648350.2025.v7.i2d.172

The neurological toll: Understanding encephalopathy in propionic acidaemia

Author(s):

Niranjan Nagaraj, M Abhitej Reddy, Pamela Deb Roy and Srujana Swarna

Abstract:

Patients with propionic acidaemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonaemia. The typical presentation includes severe, potentially fatal episodes marked by ketosis and profound metabolic acidosis. Mortality in infancy is high. Here we present a case of severe metabolic acidosis with hyperammonaemia in a male neonate admitted for lethargy, irritability and seizures. Baby was treated with AAMD diet and baby was clinically improved.

DOI: 10.33545/26648350.2025.v7.i2d.172

Pages: 253-255 | 132 Views 54 Downloads

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International Journal of Pediatrics and Neonatology

How to cite this article:

Niranjan Nagaraj, M Abhitej Reddy, Pamela Deb Roy and Srujana Swarna. The neurological toll: Understanding encephalopathy in propionic acidaemia. Int. J. Pediatr. Neonatology 2025;7(2):253-255. DOI: 10.33545/26648350.2025.v7.i2d.172

Vol. 7, Issue 2, Part D (2025)

The neurological toll: Understanding encephalopathy in propionic acidaemia

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