Recurrent Encephalopathy with Metabolic Acidosis and Hypoglycemia: Do not Forget Fructose Metabolism
- PMID: 36911435
- PMCID: PMC9996512
- DOI: 10.4103/aian.aian_768_22
Recurrent Encephalopathy with Metabolic Acidosis and Hypoglycemia: Do not Forget Fructose Metabolism
Conflict of interest statement
There are no conflicts of interest.
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References
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- Bijarnia-Mahay S, Bhatia S, Arora V. Fructose-1,6-Bisphosphatase Deficiency. 2019 Dec 5. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet] Seattle (WA): University of Washington, Seattle; 1993-2022. - PubMed
-
- El-Maghrabi MR, Lange AJ, Jiang W, Yamagata K, Stoffel M, Takeda J, et al. Human fructose-1, 6-bisphosphatase gene (FBP1): Exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1, 6-bisphosphatase deficiency. Genomics. 1995;27:520–5. - PubMed
-
- Baker L, Winegrad A. Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1, 6-diphosphatase activity. Lancet. 1970;296:13–6. - PubMed
-
- Afroze B, Yunus Z, Steinmann B, Santer R. Transient pseudo-hypertriglyceridemia: A useful biochemical marker of fructose-1, 6-bisphosphatase deficiency. Eur J Pediatr. 2013;172:1249–53. - PubMed