Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

Eur J Pediatr. 2013 Sep;172(9):1249-53. doi: 10.1007/s00431-013-2084-6. Epub 2013 Jul 24.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Biomarkers / blood
  • Child, Preschool
  • DNA Helicases / genetics*
  • DNA-Binding Proteins / genetics*
  • Fructose-1,6-Diphosphatase Deficiency / blood
  • Fructose-1,6-Diphosphatase Deficiency / complications
  • Fructose-1,6-Diphosphatase Deficiency / diagnosis*
  • Fructose-1,6-Diphosphatase Deficiency / ethnology
  • Fructose-1,6-Diphosphatase Deficiency / genetics
  • Genetic Markers
  • Genetic Testing
  • Homozygote
  • Humans
  • Hypertriglyceridemia / blood
  • Hypertriglyceridemia / diagnosis
  • Hypertriglyceridemia / etiology*
  • India / ethnology
  • Infant
  • Male
  • Mutation, Missense*
  • Pakistan
  • RNA-Binding Proteins
  • Triglycerides / blood*

Substances

  • Biomarkers
  • DNA-Binding Proteins
  • FUBP1 protein, human
  • Genetic Markers
  • RNA-Binding Proteins
  • Triglycerides
  • DNA Helicases