KEGG   DISEASE: H00114Help
Entry
H00114                      Disease                                

Name
Fructose-1,6-bisphosphatase deficiency
Description
Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder caused by a defect in FBP1 gene and characterized by impaired gluconeogenesis.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Glycolysis / Gluconeogenesis
Gene
FBP1; fructose-1,6-bisphosphatase 1 [HSA:2203] [KO:K03841]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:8884571
  Authors
van den Berghe G
  Title
Disorders of gluconeogenesis.
  Journal
J Inherit Metab Dis 19:470-7 (1996)
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