E74.12
Hereditary fructose intolerance
Clinical Classification Guidelines
Inclusion Terms
- Fructosemia
Medical Intelligence & Overview
Hereditary Fructose Intolerance, also known as Fructosemia, is a genetic disorder affecting the body's ability to break down fructose, a type of sugar found in many fruits, vegetables, and sweeteners. This condition is inherited in an autosomal recessive pattern, meaning that both parents must carry the defective gene for a child to inherit the disorder. It typically presents in early childhood, often when foods containing fructose or sucrose (which breaks down into fructose and glucose) are introduced into the diet. Recognizing and managing this condition is essential to prevent serious health problems, such as hypoglycemia, liver damage, and kidney issues.
Causes & Symptoms
Clinical Causes: Inherited genetic mutation affecting the aldolase B enzyme involved in fructose metabolism Autosomally recessive inheritance pattern, requiring both parents to pass on the defective gene
Key Symptoms: Vomiting after eating foods containing fructose or sucrose Abdominal pain and bloating Lethargy and weakness Hypoglycemia (low blood sugar levels) Jaundice or yellowing of the skin and eyes Poor appetite and failure to thrive in infants Liver and kidney problems over time if the condition remains untreated
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves a combination of medical history, dietary assessments, and laboratory tests. Key diagnostic steps include: - Blood tests to measure fructose levels - Enzymatic activity testing of aldolase B enzyme in liver tissue - Genetic testing to identify mutations in the ALDOB gene - Oral fructose tolerance test under medical supervision Early diagnosis is critical to establishing an appropriate dietary management plan and preventing complications.
Treatment Protocols: The primary treatment for Hereditary Fructose Intolerance involves lifelong dietary management. Strategies include: - Avoiding foods high in fructose, sucrose, and sorbitol - Reading food labels carefully to identify hidden sources of fructose - Using alternative sweeteners that do not contain fructose or sucrose - Regular medical follow-up to monitor liver and kidney health - Nutritional counseling to ensure balanced intake of essential nutrients Medications are generally not used to treat this condition, emphasizing the importance of dietary adherence.
Clinical Advice & FAQs
Billing Guidance
Is E74.12 a billable ICD-10 code?
Yes, E74.12 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.12?
Clinical documentation must specify the nature of Hereditary fructose intolerance and any associated comorbidities for accurate reporting.
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