8d44

Structural highlights

Disease

ALDOB_HUMAN Defects in ALDOB are the cause of hereditary fructose intolerance (HFI) [MIM:229600. HFI is an autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life.^{[1] [2] [3] [4] [5] [6] [7] [8] [9] [10]}

Function

ALDOB_HUMAN

References

1. ↑ Santamaria R, Esposito G, Vitagliano L, Race V, Paglionico I, Zancan L, Zagari A, Salvatore F. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. Biochem J. 2000 Sep 15;350 Pt 3:823-8. PMID:10970798
2. ↑ Cross NC, Tolan DR, Cox TM. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell. 1988 Jun 17;53(6):881-5. PMID:3383242
3. ↑ Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G, et al.. Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet. 1990 Feb 10;335(8685):306-9. PMID:1967768
4. ↑ Brooks CC, Tolan DR. A partially active mutant aldolase B from a patient with hereditary fructose intolerance. FASEB J. 1994 Jan;8(1):107-13. PMID:8299883
5. ↑ Ali M, Sebastio G, Cox TM. Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. Hum Mol Genet. 1994 Jan;3(1):203-4. PMID:8162030
6. ↑ Cross NC, Stojanov LM, Cox TM. A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. Nucleic Acids Res. 1990 Apr 11;18(7):1925. PMID:2336380
7. ↑ Lau J, Tolan DR. Screening for hereditary fructose intolerance mutations by reverse dot-blot. Mol Cell Probes. 1999 Feb;13(1):35-40. PMID:10024431 doi:S0890-8508(98)90208-0
8. ↑ Sanchez-Gutierrez JC, Benlloch T, Leal MA, Samper B, Garcia-Ripoll I, Feliu JE. Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. J Med Genet. 2002 Sep;39(9):e56. PMID:12205126
9. ↑ Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. Hum Mutat. 2004 Dec;24(6):534. PMID:15532022 doi:10.1002/humu.9290
10. ↑ Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschutter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat. 2005 Jun;25(6):594. PMID:15880727 doi:10.1002/humu.9343