Essential fructosuria
ICD-10 E74.11 is a billable code used to indicate a diagnosis of essential fructosuria.
Essential fructosuria is a benign metabolic disorder characterized by the inability to metabolize fructose due to a deficiency of the enzyme fructokinase. This condition leads to the accumulation of fructose in the urine, which is typically excreted without causing any significant health issues. Patients with essential fructosuria often remain asymptomatic and may only discover their condition incidentally during routine urinalysis. The disorder is inherited in an autosomal recessive pattern, meaning that both parents must carry the gene for a child to be affected. While fructose is a common sugar found in many fruits and sweeteners, individuals with essential fructosuria can usually tolerate dietary fructose without adverse effects. However, they may need to be cautious about excessive fructose intake, especially in the form of high-fructose corn syrup. Diagnosis is primarily through urine tests that reveal elevated levels of fructose, and genetic testing can confirm the deficiency of fructokinase. Overall, essential fructosuria is considered a mild condition with a favorable prognosis, and management typically involves dietary education rather than strict avoidance of fructose.
Detailed family history and genetic testing results
Patients presenting with unexplained urinary fructose levels
Ensure genetic counseling is documented for affected families
Growth and development assessments, dietary history
Children with incidental findings of fructose in urine
Monitor for any dietary impacts on growth
Used to confirm diagnosis in patients suspected of having essential fructosuria.
Document the reason for testing and any relevant clinical history.
Genetic specialists should ensure comprehensive family history is included.
Essential fructosuria is a benign metabolic disorder caused by a deficiency of the enzyme fructokinase, leading to the accumulation of fructose in urine without significant health issues.
Diagnosis is typically made through urine tests that reveal elevated fructose levels, and genetic testing can confirm the deficiency of fructokinase.
Most individuals with essential fructosuria do not require treatment, but dietary education may be beneficial to avoid excessive fructose intake.
