title: Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy.
abstract: We report the result of enzymatic and molecular analyses, using cultured lymphocyte fractions (cultivated monocytes), of six Japanese patients (from five families) and one Italian patient with fructose-1,6-bisphosphatase (FBPase) deficiency. Enzymatic analysis demonstrated FBPase deficiency in all seven patients, including the Italian patient whose fructose-1,6-bisphosphatase activity has been reported to be normal in leukocytes but deficient in liver. Molecular analysis of the FBPase gene identified pathogenic mutations in only 8 among the total 12 alleles of six families. We have thus demonstrated the validity of using cultured monocytes as a secure and noninvasive alternative to liver biopsy for accurate diagnosis of FBPase deficiency.
authors: Departments of Pediatrics, Fukui Medical University, Matsuoka, Japan. kikawa@fmsrsa.fukui-med.ac.jp
authors: Y
authors: Y
authors: Kikawa
authors: Y S
authors: YS
authors: Shin
authors: M
authors: M
authors: Inuzuka
authors: E
authors: E
authors: Zammarchi
authors: M
authors: M
authors: Mayumi
mesh_terms: D000483:Alleles; D002478:Cells, Cultured; D002648:Child; D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000175:diagnosis*; D006597:Fructose-Bisphosphatase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology* / Q000473:pathology; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D009000:Monocytes / Q000166:cytology / Q000201:enzymology*; D016254:Mutagenesis, Insertional
chemical_list: D006597:Fructose-Bisphosphatase