Publications by authors named "Anusha Varuni Gunaratna"
Article Synopsis
- Pyruvate carboxylase deficiency is a rare genetic condition affecting the enzyme that converts pyruvate to oxaloacetate, leading to three clinical phenotypes: neonatal type A, infantile type B, and a benign type C.
- This case series documents three Sri Lankan neonates, including two siblings, who exhibited respiratory distress at birth, with one sibling showing typical signs of type B and the other exhibiting unique characteristics of type A.
- The study emphasizes the importance of quick lab tests in newborns with breathing difficulties and metabolic issues for better management and family support, urging for more research on the overlapping symptoms of the different phenotypes.
