Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis.
Fructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygous Arthrobacter luteus (Alu) insertion in the FBP1 gene, reported for the first time.
['Ramakrishna|Somashekara Hosaagrahara|SH|', 'Patil|Siddaramappa Jagdish|SJ|', 'Jagadish|Anusha Aladakatte|AA|', 'Sapare|Anil Kumar|AK|', 'Sagar|Hiremath|H|', 'Kannan|Subramanian|S|']
D020087:Alu Elements D001483:Base Sequence D002648:Child D057210:Delayed Diagnosis D005260:Female D015319:Fructose-1,6-Diphosphatase Deficiency D006597:Fructose-Bisphosphatase D006720:Homozygote D006801:Humans D009154:Mutation D017385:Sequence Homology
fructose-1,6-bisphosphatase deficiency Alu insertion lactic acidosis recurrent hypoglycemia urine glycerol