Fructose-1, 6-diphosphatase deficiency

Introduction: Fructose-1, 6-diphosphatase deficiency

Description of Fructose-1, 6-diphosphatase deficiency

Fructose-1, 6-diphosphatase deficiency: 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.
Source: Diseases Database

Fructose-1, 6-diphosphatase deficiency: 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.
Source: MeSH 2007

Fructose-1, 6-diphosphatase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Fructose-1, 6-diphosphatase deficiency:

• Fructose
• Diphosphatase
• Deficiency

Terms associated with Fructose-1, 6-diphosphatase deficiency:

Terms Similar to Fructose-1, 6-diphosphatase deficiency:

• Baker-Winegrad disease

Source: Diseases Database

• Fructose-1,6-Bisphosphatase Deficiency
• Fructose-Biphosphatase Deficiency
• Hexosediphosphatase Deficiency

Source - MeSH 2007

Broader terms for Fructose-1, 6-diphosphatase deficiency

• Fructose Metabolism, Inborn Errors

Source - MeSH 2007

Hierarchical classifications of Fructose-1, 6-diphosphatase deficiency

The following list attempts to classify Fructose-1, 6-diphosphatase deficiency into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors
        • Fructose Metabolism, Inborn Errors
          • Fructose-1,6-Diphosphatase Deficiency

MeSH 2007 Hierarchy

• Nutritional and Metabolic Diseases
  • Metabolic Diseases
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors
        • Fructose Metabolism, Inborn Errors
          • Fructose-1,6-Diphosphatase Deficiency

External links related to: Fructose-1, 6-diphosphatase deficiency

• eMedicine - Fructose 1,6-Diphosphatase Deficiency : Article by Robert J Ferry, Jr, MD
• OMIM - FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1

Source: Diseases Database

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