Fructose 1,6-bisphosphatase deficiency: Enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Åsberg, Cristine ^a   Hjalmarson, Ola ^b   Alm, Jan ^c   Martinsson, Tommy ^b   Waldenström, Johan ^a   Hellerud, Christina ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; FRUCTOSE BISPHOSPHATASE; DIAGNOSTIC AGENT;

ADULT; CASE REPORT; CELL CULTURE; CHILD; DIAGNOSTIC USE; DRUG EFFECTS; ENZYMOLOGY; FATALITY; FEMALE; FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEREDITY; HETEROZYGOTE; HUMAN; INFANT; JEJUNUM; MALE; METABOLISM; MONOCYTE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE; PRESCHOOL CHILD; PROGNOSIS; TIME; ARTICLE; DRUG EFFECT; HEREDITARY FRUCTOSE INTOLERANCE;

ADULT; CALCITRIOL; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY; FRUCTOSE-BISPHOSPHATASE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEREDITY; HETEROZYGOTE; HUMANS; INFANT; JEJUNUM; MALE; MONOCYTES; MUTATION; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; TIME FACTORS;

EID: 84897926546     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9034-5     Document Type: Article

References (34)

1. Alexander D, Assaf M, Khudr A, Haddad I, Barakat A (1985) Fructose-1, 6-diphosphatase deficiency: diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods. J Inherit Metab Dis 8:174-177
2. Baker L, Winegrad AI (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1, 6-diphosphatase activity. Lancet 2:13-16
3. Besley GT, Walter JH, Lewis MA, Chard CR, Addison GM (1994) Fructose-1, 6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. J Inherit Metab Dis 17:333-335
4. Buhrdel P, Bohme HJ, Didt L (1990) Biochemical and clinical observations in four patients with fructose-1, 6-diphosphatase deficiency. Eur J Pediatr 149:574-576
5. Burlina AB, Poletto M, Shin YS, Zacchello F (1990) Clinical and biochemical observations on three cases of fructose-1, 6-diphosphatase deficiency. J Inherit Metab Dis 13:263-266
6. Caren H, Erichsen J, Olsson L et al. (2008) High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene. BMC Genomics 9:353
7. el-Maghrabi MR, Lange AJ, Jiang W et al. (1995) 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 27:520-525
8. Emery JL, Howat AJ, Variend S, Vawter GF (1988) Investigation of inborn errors of metabolism in unexpected infant deaths. Lancet 2:29-31
9. Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F et al. (2009) Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. Eur J Pediatr 168(12):1467-1471
10. Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC (2002) An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 295:2258-2261
11. Greene HL, Stifel FB, Herman RH (1972) "Ketotic hypoglycemia" due to hepatic fructose-1, 6-diphosphatase deficiency: treatment with folic acid. Am J Dis Child 124:415-418
12. Hellerud C, Adamowicz M, Jurkiewicz D et al. (2003) Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis. Mol Genet Metab 79:149-159
13. Hellerud C, Wramner N, Erikson A, Johansson A, Samuelson G, Lindstedt S (2004) Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis. Acta Paediatr 93:911-921
14. Herzog B, Wendel U, Morris AA, Eschrich K (1999) Novel mutations in patients with fructose-1, 6-bisphosphatase deficiency. J Inherit Metab Dis 22:132-138
15. Herzog B, Morris AA, Saunders C, Eschrich K (2001) Mutation spectrum in patients with fructose-1, 6-bisphosphatase deficiency. J Inherit Metab Dis 24:87-88
16. Ito M, Kuroda Y, Kobashi H et al. (1984) Detection of heterozygotes for fructose 1, 6-diphosphatase deficiency by measuring fructose 1, 6-diphosphatase activity in their cultured peripheral lymphocytes. Clin Chim Acta 141:27-32
17. Janssen AJ, Trijbels FJ (1982) A new radiochemical assay for fructose-1, 6-diphosphatase in human leucocytes. Clin Chim Acta 119:143-148
18. Kikawa Y, Inuzuka M, Takano T et al. (1994) cDNA sequences encoding human fructose 1, 6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose 1, 6-bisphosphatase deficiency. Biochem Biophys Res Commun 199:687-693
19. Kikawa Y, Inuzuka M, Jin BY et al. (1995) Identification of a genetic mutation in a family with fructose-1, 6-bisphosphatase deficiency. Biochem Biophys Res Commun 210:797-804
20. Kikawa Y, Inuzuka M, Jin BY et al. (1997) Identification of genetic mutations in Japanese patients with fructose-1, 6-bisphosphatase deficiency. Am J Hum Genet 61:852-861
21. Kikawa Y, Takano T, Nakai A et al. (1993a) Monocytes, not lymphocytes, show increased fructose-1, 6-diphosphatase activity during culture. J Inherit Metab Dis 16:913-914
22. Kikawa Y, Takano T, Nakai A, Shigematsu Y, Sudo M (1993b) Detection of heterozygotes for fructose-1, 6-diphosphatase deficiency by measuring fructose-1, 6-diphosphatase activity in monocytes cultured with calcitriol. Clin Chim Acta 215:81-88
23. Kikawa Y, Shin YS, Inuzuka M, Zammarchi E, Mayumi M (2002) Diagnosis of fructose-1, 6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. J Inherit Metab Dis 25:41-46
24. Kumagai K, Itoh K, Hinuma S, Tada M (1979) Pretreatment of plastic Petri dishes with fetal calf serum. A simple method for macrophage isolation. J Immunol Methods 29:17-25
25. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265-275
26. Matsuura T, Chinen Y, Arashiro R et al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1, 6-bisphosphatase (FBPase) deficiency. Mol Genet Metab 76:207-210
27. Melancon SB, Khachadurian AK, Nadler HL, Brown BI (1973) Metabolic and biochemical studies in fructose 1, 6-diphosphatase deficiency. J Pediatr 82:650-657
28. Prahl P, Christensen E, Hansen L, Mortensen HB (2006) Fructose 1, 6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia. Ugeskr Laeger 168:4014-4015
29. Racker E (1962) Fructose-1,6-diphosphatase from Spinach Leaves. In: Sidney NOK, Colowick P (ed) Methods in enzymology. Vol. 5. Academic Press Inc. Ltd. pp 272-276
30. Shin YS (1993) Diagnosis of fructose-1, 6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients. Clin Investig 71:115-118
31. Solomon DH, Raynal MC, Tejwani GA, Cayre YE (1988) Activation of the fructose 1, 6-bisphosphatase gene by 1, 25-dihydroxyvitamin D3 during monocytic differentiation. Proc Natl Acad Sci U S A 85:6904-6908
32. Steinmann B, Gitzelmann R, Van der Berhge G (2001) Disorders of fructose metabolism. In: The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1489-1520
33. Tillmann H, Eschrich K (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1, 6-bisphosphatase. Gene 212:295-304
34. Zammarchi E, Donati MA, Ciani F, Rubetti P, Pasquini E (1995) Fructose-1, 6-Diphosphatase Deficiency Misdiagnosed as Reye Syndrome. Clin Pediatr 34:561-564