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Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Apr 2022

Emecen Sanli Merve, Cengiz Basak, Kilic Ayse, Ozsaydi Ekin, Inci Asli, Okur Ilyas, Tumer Leyla, Lebigot Elise, Ezgu Fatih

Abstract excerpt

OBJECTIVES: Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by FBP1, and the enzyme catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose 6-phosphate. Patients with recurrent episodes of metabolic acidosis, hypoglycemia, hypertriglyceridemia, and hyperketonemia are present. METHODS: In this study, we describe the clinical,...

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PMID: 35179010
DOI: 10.1515/jpem-2021-0732

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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