E74.20
Disorders of galactose metabolism, unspecified
Clinical Classification Guidelines
Medical Intelligence & Overview
Disorders of galactose metabolism are a group of rare genetic conditions that affect how the body processes galactose, a type of sugar found mainly in milk and dairy products. When these disorders occur, the body is unable to properly break down galactose, leading to a build-up of harmful substances that can cause damage to various organs. The specific diagnosis associated with the ICD-10 code E74.20 refers broadly to these metabolic disturbances when the exact type isn't specified. Recognizing and managing these conditions early is crucial to prevent potential complications and ensure a better quality of life.
Causes & Symptoms
Clinical Causes: Inherited genetic mutations affecting enzymes responsible for galactose metabolism Autosomal recessive inheritance pattern, meaning both parents carry a copy of the affected gene Mutations in the GALT, GALK, or GALE genes, which encode enzymes such as galactose-1-phosphate uridyltransferase, galactokinase, and epimerase, respectively No known environmental factors directly cause these disorders, but genetic predisposition plays a key role
Key Symptoms: Vomiting and diarrhea in infants Lethargy and poor feeding Jaundice (yellowing of the skin and eyes) Swelling of the liver (hepatomegaly) Hypoglycemia (low blood sugar levels) Failure to thrive or weight loss Developmental delays and intellectual disabilities if untreated Risk of infections and bleeding issues
Diagnostic & Treatment
Diagnosis Path: Diagnosis often begins with clinical suspicion based on symptoms observed in infants or children. Laboratory tests are used to confirm the disorder, including:
Treatment Protocols: Strict elimination of galactose and lactose from the diet, primarily through avoiding milk and dairy products Use of specialized formulas that lack galactose for infants Regular monitoring of metabolic status and organ function Supportive care for symptoms or complications that may arise Genetic counseling for affected families
Clinical Advice & FAQs
Billing Guidance
Is E74.20 a billable ICD-10 code?
Yes, E74.20 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.20?
Clinical documentation must specify the nature of Disorders of galactose metabolism, unspecified and any associated comorbidities for accurate reporting.
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