E74.2
Disorders of galactose metabolism
Clinical Classification Guidelines
Medical Intelligence & Overview
Disorders of galactose metabolism are a group of rare genetic conditions in which the body cannot properly process galactose, a type of sugar found mainly in milk and dairy products. These disorders can lead to a buildup of galactose and its toxic byproducts in the body, potentially causing various health problems. Proper diagnosis and management are vital for preventing complications, especially in infants and young children.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting enzymes involved in galactose metabolism Inherited autosomal recessive inheritance pattern Deficiencies in enzymes such as galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), or UDP-galactose-4-epimerase (GALE)
Key Symptoms: Vomiting and feeding difficulties in infants Poor weight gain and growth delays Lethargy or irritability Jaundice (yellowing of the skin and eyes) Hepatomegaly (enlarged liver) Eye problems, including cataracts, especially in galactokinase deficiency Frequent infections or illnesses due to immune system impact Failure to thrive and developmental delays if untreated
Diagnostic & Treatment
Diagnosis Path: Blood tests measuring activity levels of enzymes involved in galactose metabolism Genetic testing to identify specific mutations Analysis of galactose and galactose-1-phosphate levels in blood and urine Observing symptoms and medical history
Treatment Protocols: Strictly avoiding galactose and lactose-containing foods, such as milk and dairy products Using specialized formulas for infants that are free from galactose Monitoring blood galactose levels regularly Managing any complications promptly, such as liver issues or cataracts Providing supportive care for developmental or neurological problems
Clinical Advice & FAQs
Billing Guidance
Is E74.2 a billable ICD-10 code?
Yes, E74.2 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.2?
Clinical documentation must specify the nature of Disorders of galactose metabolism and any associated comorbidities for accurate reporting.
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