E74.11
Essential fructosuria
Clinical Classification Guidelines
Inclusion Terms
- Fructokinase deficiency
Medical Intelligence & Overview
Essential fructosuria is a rare, mild inherited metabolic condition caused by a deficiency of the enzyme fructokinase. This enzyme is responsible for breaking down fructose, a type of sugar found naturally in fruits, honey, and some vegetables. When fructokinase activity is reduced or absent, fructose is not properly metabolized, leading to its accumulation in the body. Fortunately, essential fructosuria typically doesn't cause serious health problems and is often discovered incidentally during routine blood tests or metabolic screenings.
Causes & Symptoms
Clinical Causes: Genetic mutation leading to deficiency of the enzyme fructokinase Inheritance in an autosomal recessive pattern, meaning both copies of the gene must be affected Absence of other metabolic disorders or conditions affecting fructose metabolism
Key Symptoms: Usually asymptomatic; many individuals are unaware they have the condition Rare cases may experience mild symptoms such as bloating or abdominal discomfort after consuming large amounts of fructose, though this is uncommon No signs of fructose intolerance or toxicity typically observed in other fructose metabolism disorders
Diagnostic & Treatment
Diagnosis Path: Diagnosis of essential fructosuria often involves detection of elevated fructose levels in blood or urine samples. Since it is typically asymptomatic, it is frequently identified during metabolic screening or genetic testing for related conditions. Confirmatory testing may include:
Treatment Protocols: No specific treatment is required for essential fructosuria, as the condition generally does not lead to health problems. Individuals are advised to:
Clinical Advice & FAQs
Billing Guidance
Is E74.11 a billable ICD-10 code?
Yes, E74.11 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.11?
Clinical documentation must specify the nature of Essential fructosuria and any associated comorbidities for accurate reporting.
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