fructose-1,6-bisphosphatase deficiency

A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.

Signs and symptoms

• Reduced tissue fructose-1,6-bisphosphatase activity
• Hypoglycemia
• Metabolic acidosis
• Lethargy
• Hyperventilation
• Seizure
• Hypotonia
• Hepatomegaly
• Dyspnea
• Increased urinary glycerol

Also known as: fructose 1 phosphate aldolase deficiency; fructose-1,6-diphosphatase deficiency