Abstract
Fructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygous Arthrobacter luteus (Alu) insertion in the FBP1 gene, reported for the first time.
Acknowledgments
The authors thank Dr. Satish Sankaran from Strands Life Sciences for technical help regarding molecular analyses.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, et al. Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. Am J Hum Genet 1997;61:852–61.10.1086/514875Search in Google Scholar
2. Baker L, Winegrad AI. Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet 1970;4:13–6.10.1016/S0140-6736(70)92474-8Search in Google Scholar
3. Burlina AB, Poletto M, Shin YS, Zacchello F. Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency. J Inherit Metab Dis 1990;13:263–6.10.1007/BF01799368Search in Google Scholar PubMed
4. Kikawa Y, Shin YS, Inuzuka M, Zammarchi E, Mayumi M. Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. J Inherit Metab Dis 2002;25:41–6.10.1023/A:1015129616599Search in Google Scholar
5. 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;172:1249–53.10.1007/s00431-013-2084-6Search in Google Scholar PubMed
6. Åsberg C, Hjalmarson O, Alm J, Martinsson T, Waldenström J, et al. Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. J Inherit Metab Dis 2010;33:S113–21.10.1007/s10545-009-9034-5Search in Google Scholar PubMed
7. Batzer MA, Deininger PL. Alu repeats and human genomic diversity. Nat Rev Genet 2002;3:370–9.10.1038/nrg798Search in Google Scholar PubMed
8. Jurka J. Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc Natl Acad Sci U S A 1997;94:1872–7.10.1073/pnas.94.5.1872Search in Google Scholar PubMed PubMed Central
9. Santer R, du Moulin M, Shahinyan T, Vater I, Maier E, et al. 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 J Rare Dis 2016;11:44.10.1186/s13023-016-0415-1Search in Google Scholar PubMed PubMed Central
10. Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, et al. Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. Eur J Pediatr 2009;168:1467–71.10.1007/s00431-009-0953-9Search in Google Scholar PubMed
11. van den Berghe G. Disorders of gluconeogenesis. J Inherit Metab Dis 1996;19:470–7.10.1007/BF01799108Search in Google Scholar PubMed
12. Kato S, Nakajima Y, Awaya R, Hata I, Shigematsu Y, et al. Pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency: difficulty in detecting glycerol-3-phosphate with solvent extraction in urinary GC/MS analysis. J Exp Med 2015;237:235–9.10.1620/tjem.237.235Search in Google Scholar PubMed
13. Gallus GN, Cardaioli E, Rufa A, Da Pozzo P, Bianchi S, et al. Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. Mol Vis 2010;16:178–83.Search in Google Scholar
14. Taşkesen M, Collin GB, Evsikov AV, Güzel A, Özgül RK, et al. Novel Alu retrotransposon insertion leading to Alström syndrome. Hum Genet 2012;131:407–13.10.1007/s00439-011-1083-9Search in Google Scholar PubMed PubMed Central
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