Disorders of galactose metabolism
ICD-10 E74.2 is a billable code used to indicate a diagnosis of disorders of galactose metabolism.
Disorders of galactose metabolism encompass a group of inherited metabolic conditions characterized by the body's inability to properly metabolize galactose, a sugar found in milk and dairy products. The most common disorder in this category is galactosemia, which is primarily caused by deficiencies in specific enzymes such as galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), or UDP-galactose 4-epimerase (GALE). These enzyme deficiencies lead to the accumulation of galactose and its metabolites in the body, resulting in various clinical manifestations including jaundice, hepatomegaly, cataracts, and developmental delays. Early diagnosis through newborn screening and dietary management, primarily the elimination of lactose-containing foods, is crucial to prevent severe complications. Long-term management may involve monitoring for potential complications such as speech and learning disabilities. Genetic counseling is also recommended for affected families to understand the inheritance patterns and risks for future offspring.
Detailed history of dietary intake, growth parameters, and developmental milestones.
Newborn screening positive for galactosemia, dietary management follow-up visits.
Ensure documentation reflects ongoing monitoring for developmental delays and dietary adherence.
Genetic testing results, family history, and counseling notes.
Referral for genetic counseling after diagnosis, family planning discussions.
Document inheritance patterns and implications for family members.
Used for confirming diagnosis of galactosemia.
Document the reason for testing and results.
Genetic specialists should ensure comprehensive family history is included.
The primary cause is genetic mutations leading to deficiencies in enzymes responsible for galactose metabolism, most commonly GALT.
