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Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2017

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 excerpt

BACKGROUND: 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 by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate in the last step of gluconeogenesis. We report here FBP1 mutations in nine consanguineous Pakistani families affected with...

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PMID: 29016355
DOI: 10.1515/jpem-2017-0188

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FBP1

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