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.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more