ArticleEuropean journal of pediatrics2013
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
Article in European journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 27 citations in OpenAlex.
- Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.Molecular genetics and metabolism reports · 2024Article
- Article
- Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association.Frontiers in genetics · 2024Article
- Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.Communications biology · 2023Article
- Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (Frontiers in immunology · 2023Article
- Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.Metabolic brain disease · 2019Article
- A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.Orphanet journal of rare diseases · 2016Article
- Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.Journal of inherited metabolic disease · 2015Article
- Recurrent Encephalopathy with Metabolic Acidosis and Hypoglycemia: Do not Forget Fructose Metabolism.Annals of Indian Academy of NeurologyArticle
- Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.Journal of postgraduate medicineArticle
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Authors and funding
4 authors at 4 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledFructose-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.
conclusionAs 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.
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