Fructosuria, Essential

Description

Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.

Genes related to Fructosuria, Essential

Clinical Features

Phenotypes and symptoms related to Fructosuria, Essential

Milia
Diabetes mellitus
Abnormality of the liver
Fructose intolerance
Impairment of fructose metabolism

Incidence and onset information

— Not enough data available about incidence and published cases.

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Fructosuria, Essential Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Fructosuria essential (sequence analysis of KHK gene). By CGC Genetics in Portugal. KHK Specificity 100 % Genes 100 %
Fructokinase, hepatic (also known as ketohexokinase) deficiency (KHK). By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands. KHK Specificity 100 % Genes 100 %
Fructosuria essential. By Centogene AG - the Rare Disease Company in Germany. KHK Specificity 100 % Genes 100 %
KHK. By Fulgent Genetics Fulgent Genetics in United States. KHK Specificity 100 % Genes 100 %

Alternate names

Fructosuria, Essential Is also known as hepatic fructokinase deficiency, ketohexokinase deficiency;fructokinase deficiency; ketohexokinase deficiency.

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