PT  - JOURNAL ARTICLE
AU  - Rihab M. Salih
AU  - Esraa A. Mohammed
AU  - Amal M. Alhashem
AU  - Sarar Mohamed
AU  - Aida I. Al-aqeel
TI  - Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis
AID  - 10.15537/smj.2020.2.24885
DP  - 2020 Feb 01
TA  - Saudi Medical Journal
PG  - 199--202
VI  - 41
IP  - 2
4099  - http://smj.org.sa/content/41/2/199.short
4100  - http://smj.org.sa/content/41/2/199.full
SO  - Saudi Med J2020 Feb 01; 41
AB  - Objectives: To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies.Methods: This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Results: Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. The mean duration from presentation to diagnosis was 39.4 months, as other diagnoses, like glycogen storage diseases and mitochondrial diseases needed to be ruled out. Development was normal apart from speech delay in one patient with a novel variant of the FBP1 gene. All patients have homozygous variants in the FBP1 gene.Conclusion: Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies.