Article
Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.
Orphanet journal of rare diseases - 20 Nov 2025
Elsayed Solaf M, Mahmoud Radwa G, Fereig Yasmeen Abdelaziz
Abstract excerpt
BACKGROUND: Fructose 1, 6 bisphosphatase (FBPase) deficiency is a rare autosomal recessive disease caused by mutations in the FBP1 gene. Symptoms of this disease are heterogeneous, with a variable age of onset, and are often confused with those of other inborn errors of metabolism. Biochemical testing is not conclusive, and patients usually need molecular testing for proper diagnosis and management. AIM OF STUDY:...
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