Fructose-1,6-bisphosphatase (FBP) deficiency is an autosomal-recessive disorder of gluconeogenesis resulting from mutations within the FBP1 gene. During periods of trivial illness, individuals with FBP deficiency
may develop ketotic hypoglycemia, metabolic acidosis, lactic acidemia, and an increased anion gap. Although detection of urinary excretion of glycerol by urine organic acid analysis has been previously described, the presence of transient
pseudo-hypertriglyceridemia in serum during metabolic decompensation has not been reported before. This study describes four consanguineous Pakistani families, in which four patients were diagnosed with FBP deficiency. All
showed transient pseudo-hypertriglyceridemia during the acute phase of metabolic decompensation, which resolved in a metabolically stable phase. Mutations in the FBP1 gene have
been described from various ethnicities, but there is very
limited literature available for the Pakistani population.
This study also describes one novel mutation in the FBP1
gene which seems to be prevalent in Pakistani–Indian
patients. Conclusion: As a result of this study, transient
pseudo-hypertriglyceridemia should be added to glyceroluria,
ketotic hypoglycemia, metabolic acidosis, and lactic acidosis
as a useful biochemical marker of FBP deficiency.