(MIM 229 600)

(Intolerance to fructose, deficiency in fructose-1-phosphate aldolase)

Rare: 1 to 10/1000,000. Autosomal recessive transmission of a fructose-1-phosphate aldolase (9q22.3) deficiency. 
Classic presentation: the infant is normal until it receives a breast  or artificial milk and during the introduction of dietary fructose: vomiting, apathy, anorexia.

Biology: hypoglycemia, hyperlactacidemia, hyperuricemia, elevation of transaminases and bilirubin levels. Hepatomegaly.

There is often an associated tubulopathy with glycosuria, fructosuria and urinary loss of amino acids. The administration of a large amount of fructose causes severe hepatocellular failure.

Dietary fructose is found in fruits, honey, some vegetables. Sorbitol and 'table' sugar are also dangerous. These patients often have a natural aversion to the sources of fructose : this can delay the diagnosis until childhood or adolescence.

Treatment: complete eviction of fructose, sucrose and sorbitol.

Anesthetic implications: 

avoid the hidden sources of fructose, sucrose and sorbitol: check the content of IV infusions !

References : 

Updated: April 2019