ArticleJournal of postgraduate medicine
Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.
Article in Journal of postgraduate medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.Molecular genetics and metabolism reports · 2024Article
- Intracellular checkpoints for NK cell cancer immunotherapy.Frontiers of medicine · 2024Review
- Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association.Frontiers in genetics · 2024Article
- The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.Genetics and molecular biology · 2021Article
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4 authors.
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Abstract
Fructose-1, 6-bisphosphatase 1 (FBP1) deficiency is an autosomal recessive disorder of gluconeogenesis resulting in severe and recurrent life-threatening episodes of hypoglycemia and lactic acidosis in infancy. We report a 16 month-old girl who presented with recurrent episodes of vomiting, rapid breathing, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Genetic analysis revealed a novel compound heterozygous mutation in FBP1 gene confirming the diagnosis of FBP1 deficiency. The patient was managed with treatment of acute episodes and preventive long-term dietary modifications. Long-term prognosis of FBP1 deficiency is excellent underlining the importance of early recognition of clinical signs, prompt diagnosis, and avoidance of fasting in this disease. FBP1 gene mutations have been described from various ethnic backgrounds, but there is limited data available from Indian population, hence the importance of this case.
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