Disorders of galactose metabolism, unspecified
ICD-10 E74.20 is a billable code used to indicate a diagnosis of disorders of galactose metabolism, unspecified.
Disorders of galactose metabolism encompass a group of inherited metabolic conditions that affect the body's ability to process galactose, a sugar found in milk and dairy products. The most common disorder in this category is galactosemia, which is caused by deficiencies in specific enzymes responsible for galactose metabolism, primarily galactose-1-phosphate uridyltransferase (GALT). When these enzymes are deficient or absent, galactose accumulates in the body, leading to toxic effects on various organs, particularly the liver, brain, and kidneys. Symptoms may include jaundice, vomiting, lethargy, and failure to thrive in infants. Long-term complications can involve developmental delays, speech difficulties, and ovarian dysfunction in females. Diagnosis typically involves newborn screening and biochemical tests to measure enzyme activity or galactose levels. Management includes dietary restrictions to eliminate galactose from the diet, particularly avoiding milk and dairy products. The unspecified nature of this code indicates that the specific enzyme deficiency has not been identified or documented, which can complicate treatment and management.
Detailed history of symptoms, dietary restrictions, and growth parameters.
Infants presenting with jaundice and failure to thrive.
Close monitoring of developmental milestones and dietary adherence.
Genetic testing results and family history of metabolic disorders.
Referral for genetic counseling and testing in families with a history of galactosemia.
Documentation of genetic counseling sessions and implications for family planning.
Used when testing for specific enzyme deficiencies in suspected cases of galactosemia.
Documentation of clinical indications for testing and informed consent.
Genetic counseling may be required prior to testing.
Common symptoms include jaundice, vomiting, lethargy, and failure to thrive in infants. Long-term complications can include developmental delays and reproductive issues.
