Other disorders of galactose metabolism
ICD-10 E74.29 is a billable code used to indicate a diagnosis of other disorders of galactose metabolism.
E74.29 refers to a group of metabolic disorders characterized by the body's inability to properly metabolize galactose, a sugar found in milk and dairy products. These disorders can arise from various enzyme deficiencies, particularly those affecting the conversion of galactose to glucose. The most common condition in this category is galactosemia, which is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT). Symptoms may include jaundice, vomiting, lethargy, and failure to thrive in infants. Other less common disorders may involve different enzymatic pathways or genetic mutations affecting galactose metabolism. Diagnosis typically involves biochemical tests to measure enzyme activity or genetic testing to identify mutations. Management often includes dietary restrictions to limit galactose intake, particularly in infancy, to prevent acute and chronic complications. Long-term monitoring is essential to manage potential complications such as cognitive impairment or ovarian dysfunction in females. The complexity of these disorders can vary, necessitating a multidisciplinary approach for optimal patient care.
Detailed clinical history, growth parameters, and dietary intake assessments.
Infants presenting with jaundice and failure to thrive.
Ensure accurate documentation of dietary restrictions and metabolic monitoring.
Genetic testing results and family history of metabolic disorders.
Patients with a family history of galactose metabolism disorders undergoing genetic counseling.
Document the specific genetic mutations identified and their implications for treatment.
Used when confirming a diagnosis of galactosemia.
Document the reason for testing and results.
Genetic counseling may be required for family members.
Common symptoms include jaundice, vomiting, lethargy, failure to thrive in infants, and potential long-term complications such as cognitive impairment and reproductive issues.
