Publications by authors named "Uma Devi Chhetri"
Mol Genet Metab Rep
December 2024
Article Synopsis
- Fructose-1, 6-bisphosphatase deficiency is a rare genetic disorder affecting fructose metabolism, primarily disrupting gluconeogenesis, and can lead to serious complications like hypoglycemia and lactic acidosis.
- A case from Western Nepal was initially misdiagnosed as pneumonia; the patient exhibited severe metabolic issues, including dehydration and respiratory distress, with consistently elevated lactate levels.
- The diagnosis was eventually confirmed through urine tests and whole exome sequencing, marking the first reported case of this condition in Nepal.
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