Author:
Ijaz Sadaqat,Zahoor Muhammad Yasir,Imran Muhammad,Ramzan Khushnooda,Bhinder Munir Ahmad,Shakeel Hussain,Iqbal Muhammad,Aslam Asim,Shehzad Wasim,Cheema Huma Arshad,Rehman Habib
Abstract
AbstractBackground:Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded byMethods:Nine families having one or two individuals affected with FBPase deficiency were enrolled over a period of 3 years. AllResults:Three differentConclusions:FBPase deficiency is often fatal in the infancy and early childhood. Early diagnosis and prompt treatment is therefore crucial to preventing early mortality. We recommend the use of c.472C>T and c.841G>A mutations as first choice genetic markers for molecular diagnosis of FBPase deficiency in Pakistan.
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
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