Fructose-1,6-Bisphosphatase Deficiency Details

Expanded Description

FDPase deficiency is a childhood disease that many children don’t survive. It is unclear whether it is hereditary, as some families have one child with the disease, where others have a number of children with it. Children who survive to puberty often have an improved tolerance and lead normal lives.

Normally managed with dietary adjustments, it is not recommended to have a carb-free or excessively high protein/fat diet. Low GI foods are especially helpful in keeping the blood sugar stable for long periods, supplementing with glucose powder/tablets in times of increased energy expenditure.

Fasting (eg. for surgeries) can precipitate an attack, so medical practitioners must be advised to provide intravenous glucose during recovery until patients can eat properly.

Prevalence

5.0 ( Per 100,000 Population ) [Source]

Causes

Classified as an error of fructose metabolism.

Disorder Symptoms

Episodic spells of hyperventilation, apnea, hypoglycemia, ketosis, and lactic acidosis, with a precipitous and often lethal course in the newborn infant.

Later episodes are often triggered by fasting and febrile infections.

Due to the enzyme defect, gluconeogenesis is severely impaired.

Gluconeogenic precursors such as amino acids, lactate, and ketones accumulate as soon as liver glycogen stores are depleted.

Patients do not vomit after fructose intake and do not develop aversion to sweets. Tolerance to fasting grows with age.

We don't have any symptoms yet.

Diagnosis

Liver biopsy

Diagnostic Tests

No diagnostic test information has been added yet.

We don't have any tests yet.

Disorder Treatments

Modified diet removing all fruit (including juices) and most vegetables. Eating plans reasonably high in grain/starchy carbs, aiming for low GI foods for blood sugar stability.

In times of illness or high energy expenditure, administration of pure glucose – either intravenously or via powder/tablet – is recommended.

We don't have any treatments yet.

Prognosis

Patients past early childhood / puberty develop normally.

Tips for Living with the Disorder

We don't have any tips yet.