E74.21
Galactosemia
Clinical Classification Guidelines
Medical Intelligence & Overview
Galactosemia is a rare genetic disorder that affects how the body processes galactose, a sugar found mainly in milk and dairy products. In individuals with this condition, the body is unable to properly break down galactose into glucose, a vital energy source. This inability can lead to a buildup of galactose and its byproducts, potentially causing severe health issues if not diagnosed and managed early. Although it is a hereditary condition, with proper medical care and dietary adjustments, many affected individuals can lead healthy lives.
Causes & Symptoms
Clinical Causes: Mutations in the GALT gene, leading to a deficiency of the galactose-1-phosphate uridyltransferase enzyme Inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the defective gene (one from each parent) to develop the disorder
Key Symptoms: Jaundice (yellowing of the skin and eyes) Swelling or tenderness in the liver and spleen Poor feeding and weight gain during infancy Vomiting and diarrhea after consuming milk or dairy products Lethargy and irritability Developmental delays in some cases Increased risk of infections due to immune system impairments
Diagnostic & Treatment
Diagnosis Path: Galactosemia is typically suspected based on clinical signs and family history. Confirmatory testing involves measuring enzyme activity levels in blood samples. Newborn screening programs often include tests for galactosemia, allowing for early detection. Additional laboratory assessments may include measurement of galactose and galactitol levels in blood or urine. Genetic testing can identify mutations in the GALT gene to support diagnosis, especially in borderline cases.
Treatment Protocols: Eliminating milk, cheese, yogurt, and other dairy foods from the diet Using lactose-free alternatives and soy-based formulas for infants Regular nutritional monitoring to ensure adequate growth and development Managing complications such as liver issues or infections promptly Providing supportive therapies to address developmental delays if they occur
Clinical Advice & FAQs
Billing Guidance
Is E74.21 a billable ICD-10 code?
Yes, E74.21 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.21?
Clinical documentation must specify the nature of Galactosemia and any associated comorbidities for accurate reporting.
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