Article
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
Annals of human genetics - 1 Sept 2018
Bhai Pratibha, Bijarnia-Mahay Sunita, Puri Ratna D, Saxena Renu, Gupta Deepti, Kotecha Udhaya, Sachdev Anil, Gupta Dhiren, Vyas Vyomesh, Agarwal Divya, Jain Vivek, Bansal Rajeev K, Kumar Tapisha G, Verma Ishwar Chander
Abstract excerpt
Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene...
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