Disorders of fructose metabolism
ICD-10 E74.1 is a billable code used to indicate a diagnosis of disorders of fructose metabolism.
Disorders of fructose metabolism encompass a group of inherited metabolic conditions characterized by the body's inability to properly metabolize fructose, a simple sugar found in many fruits and sweeteners. The most notable disorders include hereditary fructose intolerance (HFI) and fructose-1,6-bisphosphatase deficiency. In HFI, the enzyme aldolase B is deficient, leading to the accumulation of fructose-1-phosphate, which can cause severe hypoglycemia, vomiting, and liver damage upon fructose ingestion. Symptoms often manifest after the introduction of fructose into the diet, typically in infancy or early childhood. Fructose-1,6-bisphosphatase deficiency, on the other hand, affects gluconeogenesis and can lead to metabolic acidosis and hypoglycemia. Diagnosis is primarily through clinical evaluation, dietary history, and biochemical tests, including enzyme assays and genetic testing. Management involves strict dietary restrictions to avoid fructose and related sugars, along with monitoring for potential complications. Understanding these disorders is crucial for healthcare providers to prevent serious health consequences associated with unrecognized fructose metabolism disorders.
Detailed dietary history and symptom onset timeline.
Infants presenting with hypoglycemia after fruit introduction.
Consideration of family history of metabolic disorders.
Genetic test results and family pedigree.
Patients with a family history of fructose intolerance presenting with symptoms.
Need for comprehensive metabolic screening in at-risk populations.
Used when genetic testing is performed to confirm diagnosis.
Include test results and clinical rationale for testing.
Genetic counseling may be necessary for family members.
Common symptoms include hypoglycemia, abdominal pain, vomiting, and failure to thrive, particularly after the ingestion of fructose or sucrose.
Diagnosis is typically made through a combination of clinical evaluation, dietary history, biochemical tests, and genetic testing.
