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 disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H00114 Fructose-1,6-bisphosphatase deficiency
