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Disease Fructose-1,6-Diphosphatase Deficiency

Name Fructose-1,6-Diphosphatase Deficiency
Synonyms Deficiencies, Fructose-1,6-Bisphosphatase | Deficiencies, Fructose-1,6-Diphosphatase | Deficiencies, Fructose-Biphosphatase | Deficiencies, Fructosediphosphatase | Deficiencies, Hexosediphosphatase | Deficiency, Fructose-1,6-Bisphosphatase | Deficiency, Fructose-1,6-Diphosphatase | Deficiency, Fructose-Biphosphatase | Deficiency, Fructosediphosphatase | Deficiency, Hexosediphosphatase | FBP1D | Fructose-1,6-Bisphosphatase Deficiencies | Fructose 1,6 Bisphosphatase Deficiency | Fructose-1,6-Bisphosphatase Deficiency | Fructose-1,6-Diphosphatase Deficiencies | Fructose 1,6 Diphosphatase Deficiency | Fructose-Biphosphatase Deficiencies | Fructose Biphosphatase Deficiency | Fructose-Biphosphatase Deficiency | Fructosediphosphatase Deficiencies | Fructosediphosphatase Deficiency | Hexosediphosphatase Deficiencies | Hexosediphosphatase Deficiency
Definition An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D015319
OMIM® ID 229700
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Fructose Metabolism, Inborn Errors Has associated chemicals Has associated genes Fructose-1,6-Diphosphatase Deficiency Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Fructose Metabolism, Inborn Errors Has associated chemicals Has associated genes Fructose-1,6-Diphosphatase Deficiency Has associated chemicals Has associated genes

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Fructose-1,6-Diphosphatase Deficiency Has associated chemicals Has associated genes
  Baker-Winegrad disease