Browse by author
Lookup NU author(s): Dr Andrew Morris
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder of gluconeogenesis. Mutations have recently been identified in Japanese patients but none has been reported in patients of other ethnic backgrounds. We have undertaken sequence analysis on genomic DNA isolated from leukocytes of four patients with FBPase deficiency. Homozygous mutations were found in all four cases. One patient was homozygous for the common mutation identified in Japanese patients (960-961insG in exon 7). The other three patients were all homozygous for novel mutations (35delA in exon 1, 778G→A in exon 6 and 966delC in exon 7). Normal and mutant FBPases were expressed in prokaryotic (E. coli TG2) and eukaryotic (COS1) cells. In cell-free extracts the mutant proteins were enzymatically inactive, indicating that the mutations are responsible for the disease. In one affected family, molecular genetic analysis allowed the diagnosis to be excluded promptly in a newborn child 3 days after birth.
Author(s): Herzog B, Wendel U, Morris AAM, Eschrich K
Publication type: Article
Publication status: Published
Journal: Journal of Inherited Metabolic Disease
Year: 1999
Volume: 22
Issue: 2
Pages: 132-138
Print publication date: 01/01/1999
ISSN (print): 0141-8955
ISSN (electronic): 1573-2665
Publisher: Springer
URL: http://dx.doi.org/10.1023/A:1005489617843
DOI: 10.1023/A:1005489617843
PubMed id: 10234608
Altmetrics provided by Altmetric
